Terminal deletion of the short arm of chromosome 5

Clinical Genetics

Volumn 34, Issue 4, 1988, Pages 219-223

  Baccichetti, C ^a   Lenzini, E ^a   Artifoni, L ^a   Caufin, D ^b   Marangoni, P ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b Pordenone Hospital ^*  (Italy)

Author keywords

cochlear malformation; cri du chat; deletion; short arm of chromosome 5

Indexed keywords

CASE REPORT; CAT CRY SYNDROME; CHROMOSOME 5P; CHROMOSOME DELETION 5; COCHLEA; CYTOLOGY; FAMILY STUDY; FEMALE; HEREDITY; HUMAN; INHERITANCE; MALE; MENTAL DEFICIENCY; PARTIAL MONOSOMY 5; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CRI-DU-CHAT SYNDROME; FEMALE; HUMAN; KARYOTYPING; MALE;

EID: 0023761525     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1988.tb02868.x     Document Type: Article

References (11)

1. Del (5p) without “cri du chat” phenotype
2. Inherited pericentric inversion of chromosome 5; a family history of neonatal death and a case of the “cri du chat” syndrome
3. Familial 5p–syndrome
4. Trois cas de deletion partielle du bras court d'un chromosome 5
5. Phenotypic mapping in man
6. The “cat cry” syndrome
7. Cytogenetic observations in 35 individuals with a 5p–karyotype
8. The “cri du chat” syndrome. Epidemiology, cytogenetics and clinical features
9. Molecular analysis of unbalanced deletion of the short arm of chromosome 5 that produces no phenotype
10. Interstitial deletion of the short arm of chromosome 5 in a mother and three children
11. Clinical heterogeneity in 80 home‐reared children with “cri du chat” syndrome