Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech delay, intellectual disability and slow growth rate, which are present with variable frequency. The typical cri du chat syndrome, due to 5p15.2 deletion, includes severe intellectual disability, facial dysmorphisms, neonatal hypotonia and pre- and post-natal growth retardation, whereas more distal deletions in 5p15.3 lead to cat-like cry and speech delay and produce the clinical picture of the atypical cri du chat syndrome, with minimal or absent intellectual impairment. In this article we report a three-generation family with an unbalanced whole arm translocation between chromosome 5 and 15 and a microdeletion of 5.5Mb involving 5p15.33-32. By ...
Background: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) ...
Cri-du-chat is a rare congenital syndrome characterized by intellectual disability, severe speech/de...
The central portion of the short arm of chromosome 5 is unusual in that large, cytogenetically visib...
Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech del...
Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results fr...
[[abstract]]Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a ...
The cri-du-chat syndrome results in children born with deletions or unbalanced translocations involv...
Abstract The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable ...
Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic feat...
Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic feat...
The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The size o...
Cri-du-chat syndrome is a genetic disease resulting from a deletion occurring on the short arm of ch...
Chromosomal syndromes may result from extremely small cytogenetic alterations, involving as little a...
Introduction: Cri-du-Chat Syndrome (CdCS) is a genetic condition due to deletions showing different ...
Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5...
Background: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) ...
Cri-du-chat is a rare congenital syndrome characterized by intellectual disability, severe speech/de...
The central portion of the short arm of chromosome 5 is unusual in that large, cytogenetically visib...
Cri du chat syndrome is characterized by cat-like cry, facial dysmorphisms, microcephaly, speech del...
Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as Cri du Chat syndrome results fr...
[[abstract]]Terminal or interstitial deletion on the short arm of chromosome 5 is associated with a ...
The cri-du-chat syndrome results in children born with deletions or unbalanced translocations involv...
Abstract The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable ...
Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic feat...
Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic feat...
The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The size o...
Cri-du-chat syndrome is a genetic disease resulting from a deletion occurring on the short arm of ch...
Chromosomal syndromes may result from extremely small cytogenetic alterations, involving as little a...
Introduction: Cri-du-Chat Syndrome (CdCS) is a genetic condition due to deletions showing different ...
Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5...
Background: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) ...
Cri-du-chat is a rare congenital syndrome characterized by intellectual disability, severe speech/de...
The central portion of the short arm of chromosome 5 is unusual in that large, cytogenetically visib...