21 Monosomy in a retarded female infant

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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...

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Apparent monosomy of a G autosome in a Jamaican infant.

Monosomy of an autosome is widely thought to be lethal (Patau, I963). Deficiencies due to deletions of chromosomes I8 and 5 are well documented (de Grouchy, Lamy, Thieffry, Arthuis, and Salmon, I963; Lejeune, Lafourcade, Berger, Vialatte, Boeswillwald, Seringe, and Turpin, I963), and reciprocal translocations which can arise in a carrier person and result in unbalanced offspring with duplicatio...

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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...

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Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1974

ISSN: 1468-6244

DOI: 10.1136/jmg.11.4.386