Cri-du-Chat Syndrome (5p- Syndrome)

An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Also Known As:
5p- Syndrome; Syndromes, Cri-du-Chat; 5p Deletion Syndrome; Chromosome 5 Short Arm Deletion Syndrome; Chromosome 5p Deletion Syndrome; Crying Cat Syndrome; Deletion of Short Arm of Chromosome 5 Syndrome; 5p Deletion Syndromes; 5p Syndrome; 5p- Syndrome, Chromosome; 5p- Syndromes; 5p- Syndromes, Chromosome; Chromosome 5p- Syndromes; Cri du Chat Syndrome; Cri-du-Chat Syndromes; Crying Cat Syndromes; Deletion Syndrome, 5p; Deletion Syndromes, 5p; Syndrome, 5p Deletion; Syndrome, 5p-; Syndrome, Chromosome 5p-; Syndrome, Cri-du-Chat; Syndrome, Crying Cat; Syndromes, 5p Deletion; Syndromes, 5p-; Syndromes, Chromosome 5p-; Syndromes, Crying Cat; Chromosome 5p- Syndrome
Networked: 68 relevant articles (2 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. De Lange Syndrome (Cornelia De Lange Syndrome)
2. Mental Retardation (Idiocy)
3. Trisomy (Trisomies)
4. Cri-du-Chat Syndrome (5p- Syndrome)
5. Microcephaly


1. Liu, Xin: 3 articles (11/2009 - 09/2004)
2. Oliver, Chris: 2 articles (05/2014 - 08/2009)
3. Moss, Jo: 2 articles (05/2014 - 08/2009)
4. Israely, Inbal: 2 articles (04/2009 - 09/2004)
5. Overhauser, J: 2 articles (03/2001 - 01/2000)
6. Terada, Kiyohito: 1 article (12/2015)
7. Nakagami, Yukako: 1 article (12/2015)
8. Hiyoshi, Toshio: 1 article (12/2015)
9. Ikeda, Hitoshi: 1 article (12/2015)
10. Inoue, Yushi: 1 article (12/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cri-du-Chat Syndrome:
1. TrypsinIBA
2. chenodeoxycholate sulfate conjugate (CDCS)IBA
3. Wolf syndromeIBA
4. DNA (Deoxyribonucleic Acid)IBA
09/01/1990 - "Since the cri-du-chat syndrome is correlated with deletions involving the short arm of chromosome 5 (5p), DNA fragments known to detect restriction fragment length polymorphisms (RFLPs) along 5p were used to establish whether the paternal or the maternal chromosome had suffered the deletion. "
11/01/1986 - "In addition, DNA fragments localized to a region near the 5p15.2-5p15.3 border, which appears to be the segment of 5p that is critical in producing the phenotype associated with the cri du chat syndrome when it is rendered hemizygous by deletion, will be useful in a molecular and DNA level analysis of this deletion syndrome."
01/01/1994 - "Fluorescence in situ hybridization (FISH) with a chromosome-region-specific DNA probe was used prospectively on uncultured amniocyte interphase cells to detect an unbalanced chromosome abnormality that resulted in cri du chat or 5p- syndrome. "
05/01/1985 - "DNA unique or low-copy fragments were isolated from a genomic DNA library specific for the short (p) arm of human chromosome 5. These chromosome 5p-specific DNA fragments were used to analyze, by Southern blot experiments, somatic cell hybrids that retained either a normal chromosome 5 homolog or a homolog with a partial deletion of 5p, which was derived from either of two persons with the common human deletion syndrome, cri du chat or 5p- syndrome. "
01/01/2010 - "We recruited 47 DNA samples corresponding to pathologies with significant frequencies (Cri du Chat syndrome, Williams syndrome, Prader Willi/Angelman syndromes, Smith-Magenis syndrome, DiGeorge syndrome, Miller-Dieker syndrome, chromosomes 13, 18 and 21 trisomies). "
5. delta cateninIBA
6. Cat cry syndromeIBA
7. Presenilin-1IBA
8. Telomerase (Telomerase Reverse Transcriptase)IBA
9. Carbon MonoxideIBA
10. trisomy 8p Chromosome 8IBA

Therapies and Procedures

1. Dental Care
2. Oral Pathology
3. Ligation
4. Anesthesia
5. Thoracotomy