Two Siblings with Partial Trisomy 15 and Monosomy 21 Associated with Central Nervous System Anomalies.
نویسندگان
چکیده
منابع مشابه
Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies.
A sister and a brother with 46, XX (46, XY), -21, +der (15) (q22.1; q22.1) mat were reported whose mother had a karyotype of 46, XX, t(15; 21)(q22.1; 22.1) and was phenotypically normal. Both sibs were mentally retarded and dysmorphic. Moreover, the sister had a holoprosencephaly with congenital hydrocephalus, and the brother showed congenital hydrocephalus.
متن کاملPartial 10q trisomy with partial 12q monosomy.
A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.
متن کاملPrecocious puberty associated with partial trisomy 18q and monosomy 11q.
We report a 10-years-old female patient with a partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia. Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,d...
متن کاملRecurrent omphalocele with partial trisomy 3q and partial monosomy 11q.
To the Editor: Omphalocele is not an uncommon malformation; however, it usually occurs sporadically with less than a 1% recurrence risk (Winter & Baraitser 1991 ). We present recurrence of omphalocele in siblings with partial trisomy 3q and partial monosomy 1 lq as the unbalanced product of a t (3; 1 1 ) (q21;q23)mat. This was the fourth pregnancy of an unrelated couple. The mother had one heal...
متن کاملCraniosynostosis associated with Partial Monosomy 2q37.3 and Partial Trisomy 5q35 including MSX2
Craniosynostosis is defined as the premature closure of the cranial sutures resulting in characteristic skull deformities. It is a rather frequent craniofacial malformation estimated to affect 1 in 2500 newborns [1]. There is a great variability in both phenotype and the underlying causes. Premature synostosis of the cranial sutures can occur either isolated (non-syndromic) or as part of a Eva-...
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: The Tohoku Journal of Experimental Medicine
سال: 1993
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.171.277