TY - JOUR
T1 - Deletions of the long arm of chromosome 6
T2 - Two new cases and review of the literature
AU - Young, R. S.
AU - Fidone, G. S.
AU - Reider-Garcia, P. A.
AU - Hansen, K. L.
AU - McCombs, J. L.
AU - Moore, C. M.
PY - 1985
Y1 - 1985
N2 - Seven terminal deletions and four interstitial deletions of 6q have been reported. We present the clinical and cytogenetic findings of these cases and of two new patients with different interstitial deletions of 6q. Although there are too few cases of interstitial deletions to identify one or more clinical syndromes associated with monosomes of the more proximal regions of 6q, a terminal 6q deletion syndrome is proposed. Its major components are microcephaly with mental retardation, strabismus, apparently low-set malformed ears, a broad nasal bridge, micrognathia, apparently short neck, congenital heart defect, abnormal palmar creases, and various hand abnormalities.
AB - Seven terminal deletions and four interstitial deletions of 6q have been reported. We present the clinical and cytogenetic findings of these cases and of two new patients with different interstitial deletions of 6q. Although there are too few cases of interstitial deletions to identify one or more clinical syndromes associated with monosomes of the more proximal regions of 6q, a terminal 6q deletion syndrome is proposed. Its major components are microcephaly with mental retardation, strabismus, apparently low-set malformed ears, a broad nasal bridge, micrognathia, apparently short neck, congenital heart defect, abnormal palmar creases, and various hand abnormalities.
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U2 - 10.1002/ajmg.1320200105
DO - 10.1002/ajmg.1320200105
M3 - Review article
C2 - 3881954
AN - SCOPUS:0022001559
VL - 20
SP - 21
EP - 29
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -