TY - JOUR
T1 - Monosomy 6q1
T2 - Syndrome delineation
AU - Romie, Susan Sheley
AU - Hartsfield, James K.
AU - Sutcliffe, Maxine J.
AU - Dumont, Doris P.
AU - Kousseff, Boris G.
PY - 1996/3/15
Y1 - 1996/3/15
N2 - 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.
AB - 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.
KW - chromosome 6
KW - dental fusion
KW - gingival hypertrophy
KW - interstitial deletion
KW - mental retardation
KW - multiple congenital anomalies
UR - http://www.scopus.com/inward/record.url?scp=0030010258&partnerID=8YFLogxK
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U2 - 10.1002/(SICI)1096-8628(19960315)62:2<105::AID-AJMG1>3.0.CO;2-V
DO - 10.1002/(SICI)1096-8628(19960315)62:2<105::AID-AJMG1>3.0.CO;2-V
M3 - Article
C2 - 8882389
AN - SCOPUS:0030010258
SN - 0148-7299
VL - 62
SP - 105
EP - 108
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -