monosomy 21 is a rare chromosomal abnormality which is persented in mosaic or homogenous forms.the latter form which is very rare,is determined by intra uterin growth retardation)IUGR),failure to thrive (FTT),prominent craniofacial,skeletal deformities and differnt degrees of delay in psychomotor activities.we report an eight years old boy who was admitted in pediatric ward(hospital No 1 of Kerman university) with the diagnosis of pneumonia.in physical examinations he was under weight,and had short stature,widening of the nose bridge,hyperthelorism,mongloid eyes,large and abnormal ears,mental retardation.the diagnosis of monosomy 21 was suspected which was confirmed by karyotyping,as mosaic form
In the course of a chromosome fragility investigation on the cancer prone hereditary disorder xerode...
Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy: We describe a girl with...
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cann...
which permits unrestricted use, distribution, and reproduction in any medium, provided the original ...
Abstract Background Autosomal monosomies in human are generally suggested to be incompatible with li...
Abstract Background Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoin...
ported in a mentally retarded girl with prominent occiput, high nasal bridge, downward slanting eyes...
Partial trisomy 1q42-qter is a rare chromosomal aberration. Most cases arise from de novo unbalanced...
Monosomy 22 is an extremely rare chro-mosomal anomaly and only six patients have been described in t...
ABSTRACT The cytogenetic analysis of a patient with Marfan’s syndrome is presented. 46rXY/45,XY,...
Aneuploidy mosaicism involving two complementary different autosomal trisomy cell lines is extremely...
We describe a female patient of 1 year and 5 months-old, referred for genetic evaluation due to neur...
AbstractWe describe a female patient of 1year and 5months-old, referred for genetic evaluation due t...
Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is ve...
Full monosomy 21 is an extremely rare chromosomal disorder. A 38-year-old woman attended a first tri...
In the course of a chromosome fragility investigation on the cancer prone hereditary disorder xerode...
Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy: We describe a girl with...
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cann...
which permits unrestricted use, distribution, and reproduction in any medium, provided the original ...
Abstract Background Autosomal monosomies in human are generally suggested to be incompatible with li...
Abstract Background Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoin...
ported in a mentally retarded girl with prominent occiput, high nasal bridge, downward slanting eyes...
Partial trisomy 1q42-qter is a rare chromosomal aberration. Most cases arise from de novo unbalanced...
Monosomy 22 is an extremely rare chro-mosomal anomaly and only six patients have been described in t...
ABSTRACT The cytogenetic analysis of a patient with Marfan’s syndrome is presented. 46rXY/45,XY,...
Aneuploidy mosaicism involving two complementary different autosomal trisomy cell lines is extremely...
We describe a female patient of 1 year and 5 months-old, referred for genetic evaluation due to neur...
AbstractWe describe a female patient of 1year and 5months-old, referred for genetic evaluation due t...
Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is ve...
Full monosomy 21 is an extremely rare chromosomal disorder. A 38-year-old woman attended a first tri...
In the course of a chromosome fragility investigation on the cancer prone hereditary disorder xerode...
Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy: We describe a girl with...
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cann...