TY - JOUR
T1 - Familial interstitial deletion of chromosome 4 (p15.2p16.1)
AU - Tonk, Vijay S.
AU - Jalal, Syed M.
AU - Gonzalez, Jose
AU - Kennedy, Amantia
AU - Velagaleti, Gopalrao V.N.
PY - 2003/1/1
Y1 - 2003/1/1
N2 - Interstitial deletion of the proximal short arm of chromosome 4, extending from p14 to p16.1 region, results in a distinct clinical syndrome. This proximal 4p deletion syndrome is characterized by variable degrees of mental retardation, unusual facies and minor dysmorphic features. Majority of the patients also show a tall, ectomorphic habitus and normal to excessive linear growth with age. While there have been several cases of such interstitial del(4p) cases reported, familial transmission of this condition has not been documented in the literature. This is the first report of a familial transmission of proximal del(4p) from a mother to her daughter, with both patients showing similar features. This report of the familial transmission of del(4p) has wider implications in genetic counseling.
AB - Interstitial deletion of the proximal short arm of chromosome 4, extending from p14 to p16.1 region, results in a distinct clinical syndrome. This proximal 4p deletion syndrome is characterized by variable degrees of mental retardation, unusual facies and minor dysmorphic features. Majority of the patients also show a tall, ectomorphic habitus and normal to excessive linear growth with age. While there have been several cases of such interstitial del(4p) cases reported, familial transmission of this condition has not been documented in the literature. This is the first report of a familial transmission of proximal del(4p) from a mother to her daughter, with both patients showing similar features. This report of the familial transmission of del(4p) has wider implications in genetic counseling.
KW - Familial transmission
KW - Interstitial deletion
KW - Linear growth
KW - del(4p)
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U2 - 10.1016/S0003-3995(03)00029-7
DO - 10.1016/S0003-3995(03)00029-7
M3 - Article
C2 - 14659781
AN - SCOPUS:0344823814
VL - 46
SP - 453
EP - 458
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 4
ER -