CRI du chat mosaicism: An unusual case of partial deletion and partial deletion/duplication of the short arm of chromosome 5, leading to an unusual CRI du chat phenotype

Genetic Counseling

Volumn 19, Issue 4, 2008, Pages 381-386

  Murru, D ^a   Boccone, L ^a   Ristaldi, M S ^b   Nucaro, Anna Lisa ^b  

^a CNR   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

Cri du Chat Syndrome mosaicism; Deletion; Deletion duplication; FISH

Indexed keywords

ARTICLE; CASE REPORT; CAT CRY SYNDROME; CHILD; CHROMOSOME 5; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINODACTYLY; EPICANTHUS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE 46,XY; LONG PHILTRUM; MACROCEPHALY; MALE; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PHYSICAL EXAMINATION; PSYCHOMOTOR RETARDATION; TELECANTHUS;

CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; CRANIOFACIAL ABNORMALITIES; CRI-DU-CHAT SYNDROME; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOSAICISM; PHENOTYPE;

EID: 59849083029     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. CERRUTI MAINARDI P.: Cri du Chat syndrome. Orphanet Journal of Rare Diseases, 2006, 1, 33.
2. CHURCH DM., BENGTSSON U., NIELSEN KV., WASMUTH JJ., NIEBUHR E.: Molecular definition of deletion of different segments of distal 5p that results in distinct phenotypic features. Am. J. Hum. Genet., 1995, 56, 1162-1172.
3. DILL FJ., SCHERTZER M, SANDERCOCK J., TISCHLER B., WOOD S.: Inverted tandem duplication generates a duplication deficiency of chromosome 8p. Clin. Genet., 1987, 32, 109-113.
4. GROSSO S., CIONI M., GARIBALDI G., PUCCI L., GALLUZZI P., CANAPICCHI R., MORGESE G., BALESTRI P.: De novo complete trisomy 5p: clinical and neuroradiological findings. Am. J. Med. Genet., 2002, 112, 56-60.
5. KITSIOU S., KOLIALEXI A., MAVROU A.: A patient mosaic cri du chat syndrome in a patient exhibiting three cell lines. Prenat. Diagn., 2004, 24, 573-580.
6. LEJEUNE J., LAFOURCADE J., BERGER R., TURPIN R.: Trois cas de deletion partielle du bras court d'un chromosome 5. C. Acad Sci., 1963, 257, 3098-3102.
7. MITCHELL JJ., VEKEMANS M., LUSCOMBE S., HAYDEN M., WEBER B., RICHTER A., SPARKES R., KOJIS T., WATTERS G., DER KALOUSTAN VM.: U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. Am. J. Med. Genet., 1994, 49, 384-387.
8. NIEBUHR E.: The cri du chat syndrome. Epidemiology, cytogenetics and clinical features. Hum. Genet., 1978, 44, 227-275.
9. OVERHAUSER J., HUANG X., GERSH M., WILSON W., MCMAHON J., BENGTSSON U., ROJAS K., MEYER M., WASMUTH JJ.: Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri du chat syndrome. Hum. Mol. Genet., 1994, 3, 247-252.
10. PERFUMO C., CERRUTI MAINARDI P., CALI' A., COUCOURDE G., ZARA F., CAVANI S., OVERHAUSER J., DAGNA BRICARELLI F., PIERLUIGI M.: The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J. Med. Genet., 2000, 37, 967-972.
11. ROMANO C., RAGUSA RM., SCILLATO F., GRECO D., BARLETTA C.: Phenotypic and phoniatric findings in mosaic cri du chat. Am. J. Med. Genet., 1991, 39, 391-395.
12. ZHANG X, SNIJDERS A., SEGRAVES R., ZHANG X., NIEBUHR A., ALBERTSON D., YANG H., GRAY J., NIEBUHR E., BOLUND L., PINKEL D.: High-resolution mapping of genotype-phenotype relationship in Cri du Chat Syndrome using arrays comparative genomic hybridisation. Am. J. Hum. Genet., 2005, 76, 312-326.