Monosomy 6q1: syndrome delineation.
We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facial anomalies.
Romie
S S
SS
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis 46202-5251, USA.
Hartsfield
J K
JK
Sutcliffe
M J
MJ
Dumont
D P
DP
Kousseff
B G
BG
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D003582:Cytogenetics; D005260:Female; D006801:Humans; D008297:Male; D009006:Monosomy; D011247:Pregnancy; D013577:Syndrome