Monosomy 10qter: a new case.

A case report of Monosomy 21

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 Ker...

A case of partial monosomy 21q22.2 associated with Rieger's syndrome.

A deleted chromosome 21 is reported in a mentally retarded girl with prominent occiput, high nasal bridge, downward slanting eyes, enophthalmus, atresia of the right lacrimal duct, displaced anal opening, and supernumerary ribs. Cytogenetic investigation of cultured lymphocytes and skin fibroblasts revealed a deletion of the long arm of chromosome 21 at sub-band q22.2 with satellites on both ar...

Mosaic 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...

Monosomy 18p

Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ear...

Monosomy G: case report and review of the literature.