Fetal growth restriction in the rare co-occurrence of chromosomal and monogenic diseases

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Resumo

In this article, we report a unique case of simultaneous occurrence of trisomy X and incontinentia pigmenti (IP) in a prematurely born girl with extremely low birth weight, a scenario that has not been documented in literature worldwide.

Understanding fetal growth restriction (FGR) is of paramount importance, as it is a major cause of stillbirth, neonatal morbidity, and mortality. Recent studies have reported the efficacy of noninvasive prenatal screening (NIPS) for fetal aneuploidies through maternal blood sampling as a valuable tool in the management of high-risk pregnancies. This method enables the detection of major fetal aneuploidies, including numerical abnormalities in the sex chromosomes.

In our clinical observation, based on the results of early combined screening, the patient was identified as at high risk for preeclampsia and FGR, both of which, despite preventive measures, occurred at the end of the second trimester of pregnancy. From the first days of life, the newborn girl developed characteristic skin lesions associated

with IP, inherited in an X-linked manner. Subsequent chromosomal analysis revealed abnormal 47,ХХХ karyotype in the child.

Conclusion: This clinical observation demonstrates the effectiveness of contemporary ante- and postnatal diagnostic methods for identifying rare combined genetic pathologies associated with FGR.

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Sobre autores

Anna Bolshakova

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: a_bolshakova@oparina4.ru
ORCID ID: 0000-0002-7508-0899

Geneticist at the Department of Clinical Genetics

Rússia, 117997, Moscow, Ac. Oparin str., 4

Ilya Barkov

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: i_barkov@oparina4.ru

PhD, Head of the Laboratory of Prenatal DNA Screening

Rússia, 117997, Moscow, Ac. Oparin str., 4

Natalia Frankevich

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: Natasha-lomova@yandex.ru
ORCID ID: 0000-0002-6090-586X

PhD, Senior Researcher

Rússia, 117997, Moscow, Ac. Oparin str., 4

Tamara Yarygina

A.N. Bakulev National Medical Research Center for Cardiovascular Surgery, Ministry of Health of Russia; Patrice Lumumba Peoples’ Friendship University of Russia

Autor responsável pela correspondência
Email: tamarayarygina@gmail.com
ORCID ID: 0000-0001-6140-1930

PhD, Diagnostic Medical Sonographer, Researcher at the Perinatal Cardiology Center, Associate Professor at the Department of Ultrasound Imaging of the Faculty of Continuing Medical Education

Rússia, 121552, Moscow, Roublyevskoe Shosse, 135; 127015, Moscow, Pistsovaya str., 10

Roman Shmakov

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: r_shmakov@oparina4.ru

Dr. Med. Sci., Professor of the Russian Academy of Sciences, Director of the Institute of Obstetrics

Rússia, 117997, Moscow, Ac. Oparin str., 4

Bibliografia

  1. Brosens I., Pijnenborg R., Vercruysse L., Romero R. The «great obstetrical syndromes» are associated with disorders of deep placentation. Am. J. Obstet. Gynecol. 2011;204(3):193-201. https://dx.doi.org/10.1016/j.ajog.2010.08.009.
  2. Соколовская Т.А., Ступак В.С. Заболеваемость беременных женщин в Российской Федерации: тенденции и прогнозы. Российский вестник акушера-гинеколога. 2022;22(5):7 14. [Sokolovskaya T.A., Stupak V.S. Morbidity of pregnant women in the Russian Federation: trends and prognosis. Russian Bulletin of Obstetrician-Gynecologist. 2022;22(5):7 14. (in Russian)] https://dx.doi.org/10.17116/rosakush2022220517.
  3. Министерство здравоохранения Российской Федерации. Приказ от 20.10.2020 №1130н «Об утверждении Порядка оказания медицинской помощи по профилю «акушерство и гинекология». Приложение 9. Зарегистрировано в Минюсте России 12 ноября 2020 г. №60869. [Ministry of Health of the Russian Federation. Order No. 1130n dated October 20, 2020 «On approval of the Procedure for the provision of medical care in the field of obstetrics and gynecology». Supplement 9. Registered with the Ministry of Justice of Russia on November 12, 2020 No. 60869. (in Russian)].
  4. Ярыгина Т.А., Батаева Р.С. Методика проведения скринингового исследования в первом триместре беременности с расчетом риска развития преэклампсии и задержки роста плода по алгоритму Фонда медицины плода (Fetal Medicine Foundation). Ультразвуковая и функциональная диагностика. 2018;4:77-88. [Yarygina T.A., Bataeva R.S. Methodology of 1st trimester screening for preeclampsia and intrauterine growth restriction according to Fetal Medicine Foundation algorithm (FMF). Ultrasound and Functional Diagnostics. 2018;4:77-88. (in Russian)].
  5. Brodsky D., Christou H. Current concepts in intrauterine growth restriction. J. Intensive Care Med. 2004;19(6):307-19. https://dx.doi.org/ 10.1177/0885066604269663.
  6. Meler E., Sisterna S., Borrell A. Genetic syndromes associated with isolated fetal growth restriction. Prenat. Diagn. 2020;40(4):432-46. https://dx.doi.org/10.1002/pd.5635.
  7. Wang L.Q., Fernandez-Boyano I., Robinson W.P. Genetic variation in placental insufficiency: What have we learned over time? Front. Cell Dev. Biol. 2022;10:1038358. https://dx.doi.org/10.3389/fcell.2022.1038358.
  8. Wu X., He S., Li Y., Guo D., Chen X., Liang B. et al. Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience. BMC Pregnancy Childbirth. 2023;23(1):73. https://dx.doi.org/10.1186/ s12884-023-05394-y.
  9. Gordijn S.J., Beune I.M., Thilaganathan B., Papageorghiou A., Baschat A.A., Baker P.N. et al. Consensus definition of fetal growth restriction: a Delphi procedure. Ultrasound Obstet. Gynecol. 2016;48(3):333-9. https://dx.doi.org/10.1002/uog.15884.
  10. Lees C.C., Stampalija T., Baschat A., da Silva Costa F., Ferrazzi E., Figueras F. et al. ISUOG practice guidelines: diagnosis and management of small-for-gestational-age fetus and fetal growth restriction. Ultrasound Obstet. Gynecol. 2020;56(2):298-312. https://dx.doi.org/10.1002/uog.22134.
  11. Министерство здравоохранения Российской Федерации. Клинические рекомендации «Недостаточный рост плода, требующий предоставления медицинской помощи матери (задержка роста плода)». 2022. [Ministry of Health of the Russian Federation. Clinical recommendations «The insufficient growth of the fetus, requiring the provision of medical care of the mother (fetal growth)». 2022. (in Russian)].
  12. Ярыгина Т.А., Гус А.И. Задержка (замедление) роста плода: все, что необходимо знать практикующему врачу. Акушерство и гинекология. 2020;12:14-24. [Yarygina T.A., Gus A.I. Fetal growth restriction (retardation): everything the practitioner should know. Obstetrics and Gynecology. 2020;(12):14-24 (in Russian)]. https://dx.doi.org/10.18565/aig.2020.12.14-24.
  13. Fetal Growth Restriction: ACOG Practice Bulletin, Number 227. Obstet. Gynecol. 2021;137(2):e16-e28. https://dx.doi.org/10.1097/AOG.0000000000004251.
  14. Kehl S., Dötsch J., Hecher K., Schlembach D., Schmitz D., Stepan H., Gembruch U. Intrauterine growth restriction. Guideline of the German Society of Gynecology and Obstetrics (S2k-Level, AWMF Registry No. 015/080, October 2016). Geburtshilfe Frauenheilkd. 2017;77(11):1157-73. https://dx.doi.org/10.1055/s-0043-118908.
  15. Merriel A., Alberry M., Abdel-Fattah S. Implications of non-invasive prenatal testing for identifying and managing high-risk pregnancies. Eur. J. Obstet. Gynecol. Reprod. Biol. 2021;256:32-9. https://dx.doi.org/10.1016/ j.ejogrb.2020.10.042.
  16. Carlson L.M., Vora N.L. Prenatal diagnosis: screening and diagnostic tools. Obstet. Gynecol. Clin. North. Am. 2017;44(2):245-56. https://dx.doi.org/10.1016/j.ogc.2017.02.004.
  17. Jacobs P.A. The incidence and etiology of sex chromosome abnormalities in man. Birth Defects Orig. Artic. Ser. 1979;15(1):3-14.
  18. Министерство здравоохранения Российской Федерации Клинические рекомендации «Нормальная беременность». 2020. [Ministry of Health of the Russian Federation. Clinical recommendations «Normal Pregnancy». 2020. (in Russian)].
  19. Salomon L.J., Alfirevic Z., Audibert F., Kagan K.O., Paladini D., Yeo G., Raine-Fenning N.; ISUOG Clinical Standards Committee. ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Ultrasound Obstet. Gynecol. 2014;44(1):122-3. https://dx.doi.org/10.1002/uog.13393
  20. Villar J., Ismail L.C., Victora C.G., Ohuma E.O., Bertino E., Altman D.G. et al. International standards for newborn weight, length, and head circumfer-ence by gestational age and sex: the newborn cross-sectional study of the INTERGROWTH-21st Project. Lancet. 2014;384(9946):857-68. https://dx.doi.org/10.1016/S0140-6736(14)60932-6.
  21. Beune I.M., Bloomfield F.H., Ganzevoort W., Embleton N.D., Rozance P.J., van Wassenaer-Leemhuis A.G. et al. Consensus based definition of growth restriction in the newborn. J. Pediatr. 2018;196:71-76.e1. https://dx.doi.org/10.1016/ j.jpeds.2017.12.059.
  22. Minić S., Trpinac D., Obradović M. Incontinentia pigmenti diagnostic criteria update. Clin. Genet. 2014;85:536-42. https://dx.doi.org/10.1111/cge.12223.
  23. Sharma D., Shastri S., Farahbakhsh N., Sharma P. Intrauterine growth restriction - part 1. J. Matern. Fetal Neonatal Med. 2016;29(24):3977-87. https://dx.doi.org/10.3109/14767058.2016.1152249.
  24. Snijders R.J., Sherrod C., Gosden C.M., Nicolaides K.H. Fetal growth retardation: associated malformations and chromosomal abnormalities. Am. J. Obstet. Gynecol. 1993;168(2):547-55. https://dx.doi.org/10.1016/ 0002-9378(93)90491-z.
  25. American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. 2020;136(4):e48-e69. https://dx.doi.org/10.1097/AOG.0000000000004084.
  26. Сухих Г.Т., Тетруашвили Н.К., Трофимов Д.Ю., Ким Л.В., Барков И.Ю., Шубина Е.С., Парсаданян Н.Г., Федорова Н.И., Гольцов А.Ю., Александрова Н.В. Неинвазивный пренатальный ДНК-скрининг методом высокопроизводительного секвенирования у беременных с акушерской патологией. Доктор.Ру. 2017; 3(132): 11-5. [Sukhikh G.T., Tetruashvili N.K., Trofimov D.Yu., Kim L.V., Barkov I.Yu., Shubina Ye.S., Parsadanyan N.G., Fedorova N.I., Goltsov A.Yu., Alexandrova N.V. Next-generation sequencing technologies as a noninvasive prenatal DNA screening method in pregnant women with obstetric disorders. Doctor.Ru. 2017; 3(132): 11-5. (in Russian)].
  27. Linden M.G., Bender B.G., Harmon R.J., Mrazek D.A., Robinson A. 47,XXX: what is the prognosis. Pediatrics. 1988;82(4):619-30.
  28. Nielsen J., Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth. Defects Orig. Artic. Ser. 1990;26(4):209-23.
  29. MacDonald M., Hassold T., Harvey J., Wang L.H., Morton N.E., Jacobs P. The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination. Hum. Mol. Genet. 1994;3(8):1365-71. https://dx.doi.org/10.1093/hmg/3.8.1365.
  30. Drummond C.L., Gomes D.M., Senat M.V., Audibert F., Dorion A., Ville Y. Fetal karyotyping after 28 weeks of gestation for late ultrasound findings in a low risk population. Prenatal Diagnosis. 2003;23(13):1068-72. https://dx.doi.org/10.1002/pd.715.
  31. Robinson A., Lubs H.A., Nielsen J., Sørensen K. Summary of clinical findings: Profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes. Birth Defects Orig. Artic. Ser. 1979;15(1):261-6.
  32. Ardelean D., Pope E. Incontinentia pigmenti in boys: a series and review of the literature. Pediatr. Dermatol. 2006;23(6):523-7. https://dx.doi.org/10.1111/j.1525-1470.2006.00302.x.
  33. Fusco F., Paciolla M., Conte M.I., Pescatore A., Esposito E., Mirabelli P. et al. Incontinentia pigmenti: report on data from 2000 to 2013. Orphanet J. Rare Dis. 2014;9:93. https://dx.doi.org/10.1186/1750-1172-9-93.
  34. Fusco F., Paciolla M., Pescatore A., Lioi M.B., Ayuso C., Faravelli F. et al. Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti. Hum. Mutat. 2009;30(9):1284-91. https://dx.doi.org/10.1002/ humu.21069.
  35. Fusco F., Paciolla M., Napolitano F., Pescatore A., D'Addario I., Bal E. et al. Genomic architecture at the incontinentia pigmenti locus favours de novo pathological alleles through different mechanisms. Hum. Mol. Genet. 2012;21(6):1260-71. https://dx.doi.org/10.1093/hmg/ddr556.
  36. Kutkowska-Kaźmierczak A., Obersztyn E., Bonnefont J.P., Rosińska-Borkowska D., Mazurczak T., Sobczyńska-Tomaszewska A., Mazurczak T. Variable clinical expression of familial incontinentia pigmenti syndrome - presentation of three cases. Med. Wieku Rozwoj. 2008;12(3):748-53.
  37. Berlin A.L., Paller A.S., Chan L.S. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J. Am. Acad. Dermatol. 2002;47(2):169-87. https://dx.doi.org/10.1067/mjd.2002.125949.
  38. Basarab T., Dunnill M.G.S., Munn S.E., Russel-Jones R. Incontinenti pigmenti: variable disease expression within the affected family. J. Eur. Acad. Dermatol. Venerol. 1998;11(2):173-6.
  39. Smahi A., Courtois G., Vabres P., Yamaoka S., Heuertz S., Munnich A. et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International incontinentia pigmenti (IP) consortium. Nature. 2000.405(678):466-72. https://dx.doi.org/10.1038/35013114.
  40. Kawai M., Sugimoto A., Ishihara Y., Kato T., Kurahashi H. Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report. BMC Pediatr. 2022;22(1):378. https://dx.doi.org/10.1186/ s12887-022-03444-6.
  41. Shibata K., Kunisada M., Miyai S., Kawamori Sh., Kurahashi H., Nishigori C. Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant. J. Dermatol. 2021;48(12):e577-e578. https://dx.doi.org/10.1111/1346-8138.16141.
  42. Fusco F., Conte M.I., Diociauti A., Bigoni S., Branda M.F., Ferlini A. et al. Unusual father-to-daughter transmission of incontinentia pigmenti due to mosaicism in IP males. Pediatrics. 2017;140(3):e20162950. https://dx.doi.org/10.1542/peds.2016-2950.
  43. Poziomczyk C.S., Recuero J.K., Bringhenti L., Maria F.D., Campos C.W., Travi G.M. et al. Incontinentia pigmenti. An. Bras. Dermatol. 2014;89(1):26-36. https://dx.doi.org/10.1590/abd1806-4841.20142584.
  44. Stevenson R.E., Hall J.G., ed. Human malformations and related anomalies. Oxford monographs on medical genetics -- no. 52. 2nd ed. Oxford University Press; 2006. 1495 p.
  45. Пушкарева Ю.Э., Федоров И.А. Случай синдрома Блоха-Сульцбергера у новорожденного ребенка. Вестник Совета молодых ученых и специалистов. 2017;3(18):57-60. [Pushkareva Yu.E., Fedorov I.A. The case of the Bloch-Sutzberger syndrome in a newborn child. Bulletin of the Council of young scientists and specialists. 2017;3(18):57-60. (in Russian)].
  46. Земсков М.А., Котлова В.Б., Долгих В.С., Иванова С.Н., Ромашова В.В. Синдром Блоха-Сульцбергера (недержание пигмента): редкий генодерматоз с поражением глаз. Consilium Medicum. 2019;21(12.2):52-3. [Zemskov M.A., Kotlova V.B., Dolgikh V.S. et al. Bloch-Sulzberger syndrome (incontinentia pigmenti) – a rare genodermatosis with injury to eyes. Consilium Medicum. 2019;21(12.2):52-3. (in Russian)]. https://dx.doi.org/10.26442/ 24143537.2019.2.190363.
  47. Черникова Т.И., Шепилов Л.А., Васина Т.Н., Зубцова Т.И., Ставцева С.Н., Вислобоков А.В. Тяжелая форма синдрома Блоха-Сульцбергера у новорожденного ребенка. Российский вестник перинатологии и педиатрии. 2014;59(5):59-62. [Chernikova T.I., Shepilov L.A., Vasina T.N., Zubtsova T.I., Stavtseva S.N., Vislobokov A.V. Severe Bloch-Sulzberger syndrome in a newborn baby. Russian Bulletin of Perinatology and Pediatrics. 2014;59(5): 59-62. (in Russian)].
  48. Артёмчик Т.А., Музыченко А.П., Устинович А.А., Крастелёва И.М., Ляшевич Е.В., Кастусик С.В. Синдром Блоха-Сульцбергера. Клинический случай. Дерматовенерология. Косметология. 2018;4(3):347-52. [Artemchik T., Muzychenko A., Ustinovich A., Krasteljova I., Lyashevich E., Kastushik S. Bloch-Sulzberger syndrome. Clinical case. Dermatovenerology. Cosmetology. 2018;4(3):347-52. (in Russian)].
  49. Краснова Н.В., Чернова Т.А., Алексеева И.В., Гималиева Г.Г., Синицына Л.Г., Мисякова Т.Ю. Клинический случай синдрома Блоха-Сульцбергера. Вестник дерматологии и венерологии. 2020;96(3):63-7. [Krasnova N.V., Chernova T.A., Alekseeva I.V., Gimalieva G.G., Sinitsyna L.G., Misyakova T.Yu. Clinical case of Bloch-Sulzberger syndrome. Bulletin of dermatology and venereology. 2020;96(3):63-7. (in Russian)]. https://dx.doi.org/10.25208/vdv1117.
  50. Иванова И.Е., Ногтева Л.Г., Горячкина Л.А., Алексеева И.В., Абрукова А.В., Гималиева Г.Г. Синдром Блоха-Сульцбергера у детей. Здравоохранение Чувашии. 2020;(3):32-40. [Ivanova I.E., Nogteva L.G., Goryachkina L.A., Alekseeva I.V., Abrukova A.V., Gimalieva G.G. Bloch-Sulzberger syndrome in children. Healthcare in Chuvashia. 2020;(3):32-40. (in Russian)].
  51. Yuan F., Zhu F.N., Liu X.J., Li J., Xu H.T. Incontinentia pigmenti: a case report of early clinical symptoms in a lack of family inheritance positive result. Clin. Cosmet. Investig. Dermatol. 2023;16:1209-14. https://dx.doi.org/10.2147/CCID.S407506.
  52. Nirmalasari D.A., Tabri F., Waspodo N., Rimayani S., Adriani A. Incontinentia pigmenti / Bloch-Sulzberger syndrome: a case report. Acta Dermatovenerol Alp. Pannonica Adriat. 2022;31(1):39-41.
  53. Михайлин Е.С., Иванова Л.А., Савицкий А.Г., Королева Л.И., Касьянова Д.С. Случай беременности и родов у пациентки с синдромом Блоха-Сульцбергера. Российский вестник акушера-гинеколога. 2017;17(2):47-9. [Mikhailin E.S., Ivanova L.A., Savitsky A.G., Koroleva L.I., Kasyanova D.S. A case of pregnancy and delivery in a patient with Bloch-Sulzberger syndrome. Russian Bulletin of Obstetrician-Gynecologist. 2017;17(2)47-9. (in Russian)]. https://dx.doi.org/10.17116/rosakush201717247-49.
  54. Kim M.J., Lyu S.W., Seok H.H., Park J.E., Shim S.H., Yoon T.K. A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti. Clin. Exp. Reprod. Med. 2014;41(4):168-73. https://dx.doi.org/10.5653/cerm.2014.41.4.168.
  55. Pettigrew R., Kuo H.C., Scriven P., Rowell P., Pal K., Handyside A. et al. A pregnancy following PGD for X-linked autosomal dominant incontinentia pigmenti (Bloch-Sulzberger syndrome): case report. Human Reproduction. 2000;15(12):2650-2. https://dx.doi.org/10.1093/humrep/15.12.2650.
  56. Бахлыкова Е.А., Комсюкова К.Ф., Матусевич С.Л., Жвавый П.Н., Ковкова Г.Ю., Немцова И.В. Случай сочетания синдрома Блоха-Сульцбергера с синдромом Дауна. Клиническая дерматология и венерология. 2018;17(4):30-4. [Bakhlykova E.A., Komsukova K.F., Matusevich S.L., Zhvavy P.N., Kovkova G.Yu., Nemtsova I.V. The case of concomitant Bloch—Sulzberger and Down syndromes. Klinicheskaya Dermatologiya i Venerologiya. Russian journal of clinical dermatology and venerology. 2018;17(4):30-4. (in Russian)]. https://dx.doi.org/10.17116/klinderma20181704130.
  57. Parrish J.E., Scheuerle A.E., Lewis R.A., Levy M.L., Nelson D.L. Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2. Hum. Mol. Genet. 1996;5(11):1777-83. https://dx.doi.org/10.1093/hmg/5.11.1777.
  58. Sugawara N., Maeda M., Manome T., Nagai R., Araki Y. Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports. Reprod. Med. Biol. 2013;12(4):193-5. https://dx.doi.org/10.1007/ s12522-013-0158-9.
  59. Skordis N., Ferrari E., Antoniadou A., Phylactou L.A., Fanis P., Neocleous V. GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47, XXX karyotype. Hormones (Athens). 2017;16(3):318-21. https://dx.doi.org/10.14310/horm.2002.1740.
  60. Wade B.S., Joshi S.H., Reuter M., Blumenthal J.D., Toga A.W., Thompson P.M., Giedd J.N. Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies. Biol. Sex Differ. 2014;5:16. https://dx.doi.org/10.1186/s13293-014-0016-4.
  61. Otter M., Schrander-Stumpel C.T., Didden R., Curfs L.M.G. The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases. Dev. Neurorehabil. 2012;15(3):233-8. https://dx.doi.org/10.3109/ 17518423.2012.655799.
  62. Tartaglia N.R., Howell S., Sutherland A., Wilson R., Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010;5:8. https://dx.doi.org/10.1186/ 1750-1172-5-8.
  63. Jańczewska I., Wierzba J., Jańczewska A., Szczurek-Gierczak M., Domżalska-Popadiuk I. Prematurity and low birth weight and their impact on childhood growth patterns and the risk of long-term cardiovascular sequelae. Children (Basel). 2023;10(10):1599. https://dx.doi.org/10.3390/children10101599.
  64. Halevy J., Peretz R., Ziv-Baran T., Katorza E. Fetal brain volumes and neurodevelopmental outcome of intrauterine growth restricted fetuses. Eur. J. Radiol. 2023;168:111143. https://dx.doi.org/10.1016/j.ejrad.2023.111143.
  65. Korzeniewski S.J., Sutton E., Escudero C., Roberts J.M. The Global Pregnancy Collaboration (CoLab) symposium on short- and long-term outcomes in offspring whose mothers had preeclampsia: A scoping review of clinical evidence. Front. Med. (Lausanne). 2022;9:984291. https://dx.doi.org/10.3389/fmed.2022.984291.
  66. Rodrigues M., Pandya A.G. Hypermelanoses. In: Kang S., Amagai M., Bruckner A.L., Enk A.H., Margolis D.J., McMichael A.J. et al., eds. Fitzpatrick’s dermatology. 9th ed. New York: McGraw-Hill; 2019. 1368 p.
  67. Greene-Roethke C. Incontinentia pigmenti: a summary review of this rare ectodermal dysplasia with neurologic manifestations, including treatment protocols. J. Pediatr. Health Care. 2017;31(6):e45-e52. https://dx.doi.org/10.1016/j.pedhc.2017.07.003.
  68. Bodemer C., Diociaiuti A., Hadj-Rabia S., Robert M.P., Desguerre I., Manière M.C. et al. Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti. J. Eur. Acad. Dermatol. Venerol. 2020;34(7):1415-24. https://dx.doi.org/10.1111/jdv.16403.

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2. Fig. 1. Electropherogram of amplification products of four microsatellite markers (DX8378, DX7132, DX7423, HPRTB) and the sex-specific amelogenin gene (AMLG) located on the X chromosome of the girl under study

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3. Fig. 2. Skin rashes with hyperkeratosis along Blaschko’s lines on the lower extremities (12th day of life)

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