Neurocognitive functioning of a child with partial trisomy 6 and monosomy 21
نویسندگان
چکیده
منابع مشابه
Partial 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 کاملFetal phenotype in a case of partial trisomy 21 and partial monosomy 22 detected prenatally.
Prenatal diagnosis was performed in a woman whose previous pregnancy resulted in a girl with probable Down syndrome who died soon after delivery. The mother was found to be a carrier of a reciprocal balanced translocation between chromosomes 21 and 22, and the fetus was found to have an unbalanced translocation involving chromosomes 21 and 22: 46,XX, -22, +t(21;22)(q22;q11)(21 pter leads to 21q...
متن کاملTwo 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 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 کاملMosaic and partial monosomy of chromosome 21 in a case with low platelets count
Background Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. Case report In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Ho...
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ژورنال
عنوان ژورنال: Neurocase
سال: 2009
ISSN: 1355-4794,1465-3656
DOI: 10.1080/13554790802631910