Disease relevance of Cri-du-Chat Syndrome

• The proband showed growth and developmental retardation, complex cardiovascular abnormalities, inguinal hernia and microcephaly in addition to facial appearance and cat-like cry characteristic of the cri-du-chat syndrome [1].

High impact information on Cri-du-Chat Syndrome

• The likely human ortholog of DOA10 is in the cri-du-chat syndrome critical region on chromosome 5p, suggesting that defective ubiquitin ligation might contribute to this common genetic disorder [2].
• Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome [3].
• A normal balanced chromosome 5 translocation carrier (5:14) (p14.1; q32.3) produced one offspring with a 5p deletion syndrome (cri du chat syndrome) and two with a partial trisomy (one with schizophrenia and the other with refractory epilepsy) [4].
• We present a family, identified through a girl with "Cri-du-chat syndrome", in which two different types of recombinants exist [del(5)(qter leads to p14:) and dup(5)(p13)] [5].
• The charts show that compared with the standard population, most children with cri-du-chat syndrome are small at birth and as they grow most, but not all, have significant microcephaly and compromised weight for age, and to a lesser extent, compromised height for age [6].

Chemical compound and disease context of Cri-du-Chat Syndrome

• Metabolic anomalies in cri du chat syndrome (5p-) lymphocytes and de novo purine synthesis [7].
• When patients with cri du chat syndrome received inosine with folinic acid, an inversion of their response to alanosine was observed as well as the normalization of their response to HAT medium [7].
• Having previously demonstrated that patients with cri du chat, 5p- syndrome, have a highly significant excess of the plasmatic and urinary relative amount of asparagine and aspartate, the authors tested the hypothesis according to which this excess could be in relation with a defect of purine metabolism [7].

Gene context of Cri-du-Chat Syndrome

• Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin [8].
• A small terminal segment of the long arm of chromosome 5 (q35-pter) is duplicated with a deletion of the short arm of chromosome 5 (p14-pter), accounting for the features of cri du chat syndrome [9].
• We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome [10].
• Hemifacial microsomia in cri du chat (5p-) syndrome [11].
• We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome [12].

References