1.
Clin Dysmorphol
; 21(1): 37-41, 2012 Jan.
Article
in English
| MEDLINE
| ID: mdl-22143350
ABSTRACT
Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article and only three of the cases involved autosomal translocations; however, no sex chromosome translocations were reported. Here we report the clinical findings of a patient with terminal 14q32 deletion derivated from at (Y;14)(q12;q32) translocation.
Subject(s)
Sequence Deletion/genetics , Translocation, Genetic/genetics , Abnormalities, Multiple/genetics , Child, Preschool , Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, Pair 14/genetics , Cytogenetic Analysis , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Male
2.
Clin Dysmorphol
; 13(1): 57-8, 2004 Jan.
Article
in English
| MEDLINE
| ID: mdl-15127772
ABSTRACT
We present a case of pentalogy of Cantrell which was diagnosed prenatally on routine ultrasound examination. There were several associated limb defects. We discuss the differential diagnosis and conclude that our case probably had a variant form of this syndrome.
