A case of spondylocostal dysostosis with a fra (5) (q32)

Turkish Journal of Pediatrics

Volumn 39, Issue 4, 1997, Pages 547-549

  Satar, Mehmet ^a   Kubra Temocin A ^a   Atici, Aytuǧ ^a   Demirhan, Osman ^a  

^a CUKUROVA UNIVERSITY   (Turkey)

Author keywords

Chromosomal abnormality; Spondylocostal dysostosis

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 5; CHROMOSOME FRAGILITY; CONGENITAL MALFORMATION; DYSOSTOSIS; GENETICS; HUMAN; MALE; NEWBORN; RIB; SPINE; SYNDROME;

CHROMOSOME FRAGILITY; CHROMOSOMES, HUMAN, PAIR 5; DYSOSTOSES; HUMANS; INFANT, NEWBORN; MALE; RIBS; SPINE; SYNDROME;

EID: 0031243043     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. nd ed). London: Churchill Livingstone; 1990: 967-988.
2. Satar M, Kozanoǧlu MN, Atilla E. Identical twins with an autosomal recessive form of spondylocostal dysostosis. Clin Genet 1992; 41: 290-292.
3. Hästbacka J, Sistonen P, Kaitila I, Weiffenbach B, Kidd KK, de la Chapella A. A linkage map spanning the locus for diastrophic dysplasia (DTD). Genomics 1991; 11: 968-973.
4. Cooke CT, Mulcahy MT, Cullity GJ, Watson M, Srague P. Camptomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case. Pathology 1985; 17: 526-529.
5. Maraia R, Saal HM, Wangsa D. A chromosome 17q de novo paracentric inversion in a patient with camptomelic dysplasia, case report and etiologic hypothesis. Clin Genet 1991; 39: 401-408.