title: Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus.
abstract: Three patients and one fetus with almost complete trisomy 17p due to familial rearrangements are described. Two patients followed unbalanced transmission of a familial pericentric inversion, and one patient and one fetus were due to unbalanced segregation of familial translocations. In the inversion family, another two patients with multiple malformations had died before chromosome examination could be performed. The pattern of congenital anomalies as revealed from eleven cases of trisomy 17p11-pter include as the most prominent features: prenatal growth retardation, microcephaly, downslanting palpebral fissures, small mouth, small mandible, poorly shaped ears, short and webbed neck, genital hypoplasia, clinodactyly of fingers, crowding of toes, a high incidence of congenital heart defects and hernias. Postnatal survival is short mainly in patients with congenital heart defects. From the age of about 6 years onward, clinical findings become more distinct, with some signs of Charcot-Marie-Tooth neuropathy (pes cavus, adducted thumbs, dorsiflexed hallux, camptodactyly and limitation of movements in different joints), and the nose gets narrow and sharp, with hypoplastic alae.
authors.affiliation: Belorussian Research Institute of Hereditary Diseases, Minsk.
authors.forename: I W
authors.initials: IW
authors.lastname: Lurie
authors.forename: D B
authors.initials: DB
authors.lastname: Gurevich
authors.forename: F
authors.initials: F
authors.lastname: Binkert
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics; D002648:Child; D002886:Chromosomes, Human, Pair 17; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011379:Prognosis; D014178:Translocation, Genetic; D014314:Trisomy