Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation.
It has been suggested that partial distal 2p2----2pter duplication causes a relatively well defined clinical syndrome, mostly as regards craniofacial dysmorphism, musculoskeletal and genitalia anomalies. Duplications covering a larger portion of 2p i.e. 2p12 or 2p13----2pter are however less documented. The authors report a new case of partial 2p13----2pter duplication which supplies further evidence for short life expectancy due to the large number of malformations in these partial duplications.
Sarda
P
P
Department of Pediatrics and Medical Genetics, Hôpital Saint-Charles, Montpellier, France.
Lefort
G
G
Devaux
P
P
Humeau
C
C
Rieu
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D005810:Multigene Family / Q000235:genetics; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome