Double Trisomy 48,XXY,+21 in a Child With Phenotypic Features of Down Syndrome
نویسندگان
چکیده
منابع مشابه
Features of autism in a Singaporean child with Down syndrome.
Regression (4 to 7 Years) John regressed at about 4 years 1 month. He lost communicative intent and the use of words that he had previously mastered. He showed no interest in toys and play. His eye contact became inconsistent and he was socially unresponsive. He rarely participated in group activities and had diffi culty following instructions. He also started to display repetitive stereotyped ...
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Mosaic trisomy 8 is a relatively common chromosomal abnormality, which shows a great variability in clinical expression, however cases with phenotypic abnormalities tend to present with a distinct, recognizable clinical syndrome with a characteristic facial appearance, a long, slender trunk, limitation of movement in multiple joints, and mild-to-moderate mental retardation; the deep plantar fur...
متن کاملMaternal Germinal Trisomy 21 in Down Syndrome
It has now been over 50 years since it was discovered that Down syndrome is caused by an extra chromosome 21, i.e., trisomy 21. In the interim, it has become clear that in the majority of cases, the extra chromosome is inherited from the mother, and there is, in this respect, a strong maternal age effect. Numerous investigations have been devoted to clarifying the underlying mechanism, most rec...
متن کاملMoyamoya syndrome in a child with Down syndrome.
Moyamoya syndrome has rarely been reported in association with Down syndrome. We report a case of an 11-year-old female child with Down syndrome who presented with hemiparesis and facial palsy. Imaging investigations (magnetic resonance angiography and digital subtraction angiography) revealed the classical Moyamoya pattern. Work-up for prothrombotic and autoimmune disorders was negative. The n...
متن کاملDouble trisomy 48,XXX,+18 with multiple dysmorphic features.
BACKGROUND Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality. METHODS Case report and literature review. RESULTS A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small f...
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ژورنال
عنوان ژورنال: Laboratory Medicine
سال: 2009
ISSN: 0007-5027,1943-7730
DOI: 10.1309/lmozoow7eac06szi