A female infant presenting predominantly with symptoms and signs of trisomy 18 was found, on chromosomal analysis, to have mosaicism of two cell lines: double autosomal trisomy of chromosomes Nos. 18 and 21, and a normal cell line. The various mechanisms which might have produced this anomaly ...
Each case of trisomy 13, 18 and 21 is associated with congenital and sometimes severe physical and neurodevelopmental symptoms. Common symptoms for all three trisomies, such as microcephaly and brachycephaly8, will likely also have been recognisable to past societies. Specifically, the external physic...
1.(Medicine)medany combination of signs and symptoms that are indicative of a particular disease or disorder 2.a symptom, characteristic, or set of symptoms or characteristics indicating the existence of a condition, problem, etc [C16: via New Latin from Greeksundromē,literally: a running togeth...
Our study reveals the need for gynaecological and genetic evaluation of broodmares, even if their phenotype (including developed external genitalia and oestrus symptoms) shows no signs of potential abnormalities. This is a preview of subscription content, log in via an institution to check access. ...
balanced translocation and trisomy for part of the short arm 10p13→pter in the second generation, and mono- and trisomy 10p13→pter in the third generation.The clinical signs and symptoms of the present case with monosomy 10p13→pter are compared with those of 9 earlier reported cases with...
Trisomy 8 syndrome, with or without mosaicism, is characterized by the following clinical signs and symptoms: mental retardation, deformed skull, prominent... T Syndrome - 《Research》 被引量: 0发表: 0年 Iso/telo-D1 mosaicism in a child with an incomplete D 1 trisomy syndrome ...
They were diagnosed as DRPLA because of their signs and symptoms. In addition, they had protuberances in the median portion of hard palate and abnormalities in ventricular system such as cavum septi pellucidi and cavum Vergae. Their chromosomes showed 15p+. Their father had also the protuberance...
A case of double autosomal trisomy with mosaicism: 48/XX (trisomy 18+21) and 46/XX A female infant presenting predominantly with symptoms and signs of trisomy 18 was found, on chromosomal analysis, to have mosaicism of two cell lines: double autosomal trisomy of chromosomes Nos. 18 and 21,...
She had extremely elevated blood sedimentation rate (95/720 mm), high IgA serum levels (995 mg/dl) and decreased values of C3c-complement (66 mg/dl). Persistent microhematuria and increasing unselective glomerular proteinuria without signs of nephrotic syndrome were found. Renal biopsy revealed ...
A case of double autosomal trisomy with mosaicism: 48/XX (trisomy 18+21) and 46/XX A female infant presenting predominantly with symptoms and signs of trisomy 18 was found, on chromosomal analysis, to have mosaicism of two cell lines: double autosomal trisomy of chromosomes Nos. 18 and 21,...