Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome. Herein, we report two cases with very distinctive phenotypes despite having the same sex chromoso...

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Veröffentlicht in:The journal of pediatric research 2022-12, Vol.9 (4), p.401-408
Hauptverfasser: Koprulu, Ozge, Acar, Sezer, Erdogan, Kadri Murat, Nalbantoglu, Ozlem, Kirkgoz, Tarik, Arslan, Gulcin, Ozkaya, Beyhan, Kutbay, Yasar Bekir, Ozkan, Behzat
Format: Artikel
Sprache:eng
Schlagworte:
ambiguous genitalia
Causes of
Complications and side effects
Diagnosis
gonadal dysgenesis
Growth disorders
Mosaicism
Pediatric research
Physiological aspects
Pseudohermaphroditism
Sex differentiation disorders
turner syndrome
x/47
xyy
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Zusammenfassung:The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome. Herein, we report two cases with very distinctive phenotypes despite having the same sex chromosome mosaicism of 45,X/47,XYY. It should be kept in mind that the rare type of sex chromosome mosaicism of 45,X/47,XYY may present with genital phenotypes ranging from normal female to male characteristics. Keywords: 45,X/47,XYY, Turner syndrome, ambiguous genitalia, gonadal dysgenesis
ISSN:2147-9445
2147-9445
2587-2478
DOI:10.4274/jpr.galenos.2022.36539