Biomedical subjects
Publications and source records attributed to F Chavin-Colin.
Partial trisomy 7qter due to malsegregation of a familial balanced translocation t(7;8)(q33;p113) is reported in a 2-year-old boy with the following features: psychomotor retardation (IQ = 46); hypotonia; normal; facial asymetry with palpebral fissures slanted downwards and outwards, deeply set eyes, and divergent strabismus.
Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q. The segment found to be trisomic in both patients is small and corresponds to the q31q32 region. This new syndrome is compared to observations of trisomy 9 reported in the literature.
A case is reported of "pure" trisomy 9p: 47,XX,+del(9) (q11). The affected 6-year-old girl has moderate psychomotor retardation (IQ near 70), with speech retardation. She is mildly dysmorphic, with the characteristic features of trisomy 9p: a "worried look", a unilateral grin, slant of the palpebral fissures, a globulous nose, brachymesophalangia and the characteristic dermatoglyphic features. The parents karyotypes are normal, except for one cell from the father which had the karyotype 46,XY,del(9)(q11), the implications of which are discussed.
Partial monosomy 11q occurring de novo and concerning the 11q231 leads to qter region, is reported in a 2-month-old boy. This observation together with three others from the literature allows the individualization of a syndrome characterized by: severe growth retardation: more or less pronounced mental retardation; trigonocephaly; facial dysmorphia.
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