XY/XYY mosaicism associated with major genital defects
| Autor: | Emilia de la Cruz, Emilio Yunis, Mizrahim Mendez |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
endocrine system medicine.medical_specialty Gonad Biopsy Genitalia Male Biology Short stature Functional Laterality Vas Deferens Internal medicine Cryptorchidism Testis XYY Karyotype Scrotum Leukocytes Genetics medicine Humans Child Fallopian Tubes Sex Chromosome Aberrations Genetics (clinical) Hypospadias Mosaicism urogenital system Vas deferens Anatomy Fibroblasts medicine.disease medicine.anatomical_structure Endocrinology Karyotyping Female medicine.symptom Abnormality Fallopian tube |
| Zdroj: | Clinical Genetics. 5:91-95 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | A 9-year-old boy with short stature and abnormal genitalia was found to have an XY/XYY chromosomal constitution. On physical examination, in addition to his short stature he had a shield chest and external genitalia showing a hypospadias with cryptorchidism on the left side. The right testicle was present in the scrotum. His intellectual performance was normal and there wax no history of abnormal behavior. Surgical exploration revealed in the left side a streak gonad with a vas deferens and a fallopian tube. Fluorescencc studies of interphasic nuclei and chromosomes confirmed the XY/XYY karyotype. Two hypotheses are advanced to account for this mosaicism. |
| Databáze: | OpenAIRE |
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