Trisomy 17p due to a t(8;17) (p23;p11.2)pat translocation. Case report and review of the literature.
We describe a female newborn girl with partial trisomy 17p, which was not detected at the initial cytogenetic investigation, but which later proved to be an unbalanced product of a paternal translocation t(8;17)(p23;p11.2). Comparison with the three previously reported patients suggests a clinically distinct "trisomy 17p syndrome", i.e. pre- and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, hypertelorism, long philtrum with thin upper lip, micrognathia and high-arched palate. Two of the four patients had a heart defect, and psychomotor developmental delay was evident in all four cases. In the present patient, the chromosomal anomaly was only detected after the finding of the autosomal reciprocal translocation in the father. The importance of cytogenetic investigations in parents of a MCA/MR child with apparently normal chromosomes is emphasized.
Schrander-Stumpel
C
C
Department of Genetics and Cell Biology, State University of Limburg, The Netherlands.
Schrander
J
J
Fryns
J P
JP
Hamers
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002886:Chromosomes, Human, Pair 17; D002898:Chromosomes, Human, Pair 8; D004374:Ductus Arteriosus, Patent / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy