Iso X(q)Y karyotype in a phenotypically female child
- Univ. of Illinois College of Medicine, Chicago, IL (United States)
A phenotypically female child of healthy and unrelated Irish/German and Irish/German/Swedish parents was diagnosed with an XY karyotype as an infant. She presented for reevaluation at 10 years of age at which time physical examination revealed severe growth and mental retardation, frequent absence seizures, mildly dysmorphic facial features, and female prepubertal external genitalia. Ultrasound examination of the abdomen revealed no evidence of a uterus or ovaries. Laproscopic examination has not yet been performed. The family history is unremarkable. High resolution chromosome analysis was recommended which revealed a 46, iso X(q)Y karyotype. Chromosome painting of the X and Y chromosomes confirmed their identity. No mosaicism was detected in peripheral blood and no X chromosome short arm material could be detected. The literature has inidicated that Turner syndrome stigmata have been observed in females with an iso X chromosome. However, our patient does not have any Turner syndrome stigmata. It is difficult to explain the phenotypic findings in this patient based on the karyotypic abnormality noted in peripheral blood. Study of other tissues has been recommended. We have been unable to identify any other cases of a 46, iso X(q)Y karyotype in either males or females.
- OSTI ID:
- 133653
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0383
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
Detection of Y chromosome sequences in a 45,X/46,XXq - patient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH)
Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases