Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalies, and joint contractures. From a comparison of the infant's phenotype with 20 other patients with a similar duplication, it is evident that partial duplication of the long arm of chromosome 6 is a clinically diagnosable syndrome.
Pivnick
E K
EK
Department of Pediatrics, University of Tennessee, Memphis 38163.
Qumsiyeh
M B
MB
Tharapel
A T
AT
Summitt
J B
JB
Wilroy
R S
RS
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002896:Chromosomes, Human, Pair 6; D005145:Face / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D005810:Multigene Family; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic