A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report
نویسندگان
چکیده
منابع مشابه
Tetrasomy 9p mosaicism associated with a normal phenotype.
Isochromosome (tetrasomy) 9p is a rare chromosomal aberration characterized by phenotypic abnormalities ranging from mild developmental delay to multiple anomalies including intrauterine growth retardation, cerebral ventriculomegaly, dysmorphic facial features, cleft lip or palate, abnormal genitalia and renal anomalies. We present a patient with isochromosome (tetrasomy) 9p mosaicism who is a ...
متن کاملReport of a Case with Trisomy 9 Mosaicism
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
متن کاملHematologic manifestations in a child with HIV a Case Report
Abstract Background Immune deficiency in human might be primary or secondary and could be seen with a wide variety of manifestations. In the following, we presented a Child with various complains that diagnosed to have HIV infection. Case Report A 2/5 y/o child was admitted to the hospital for FUO with prolonged cough, FTT, cervical lymphadenopathy, hepatosplenomegaly and bilateral opti...
متن کاملTetrasomy 9p confirmed by GALT.
We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case wit...
متن کاملCongenital diaphragmatic hernia in a patient with tetrasomy 9p.
Tetrasomy of the short arm of chromosome 9 constitutes a rare condition resulting in a well clinically recognized syndrome. In our case, in addition to the characteristic phenotype at birth, the existence of a hernia-type Bochdalek diaphragmatic defect was found. Cytogenetic analysis revealed a nonmosaic case of an isochromosome of the entire short arm of chromosome 9 with no involvement of the...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Assisted Reproduction and Genetics
سال: 2020
ISSN: 1058-0468,1573-7330
DOI: 10.1007/s10815-020-01690-0