New chromosomal dysmorphic syndromes

Abstract

Chromosome analysis in a newborn, the daughter of diabetic parents, who showed multiple dysmorphic signs and malformations revealed direct duplication of a long arm segment of chromosome 3(3q2100 leads to 3q2700). Both parents have normal karyotypes. Compilation of the phenotype stigmata with those of 7 other patients and 1 fetus with partial trisomy 3q confirmed that clinical recognition of this syndrome is possible. It is characterized by hypertrichosis, typical craniofacial dysmorphia, frequent organ malformations and skeletal anomalies, as well as a peculiar dermatoglyphic pattern. It is a severe genetic disturbance, leading to death in the first months of life in many cases and only symptomatic care is advised.

De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies

“…Since then only 12 patients with complete (involving 12p11 or 12p12 to 12pter) and pure (no concomitant euchromatic aneusomy) trisomy 12p according to the classification by Stengel-Rutkowski et al (1981) and Allen et al (1996) allowing a reliable phenotype-genotype correlation have been published (for review see Stengel-Rutkowski et al, 1981;Allen et al, 1996;Rauch et al, 1996;Tekin et al, 2001;Zumkeller et al, 2004). Additionally three cases of possibly complete trisomy 12p involving mosaicism have been reported so far ( Table 2 ) (Kondo et al, 1979;Guerrini et al, 1990;Karki et al, 1990).…”

First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

“…Stengel-Rutkowski et al, 1977;Snyder et al, 1984;Berend et al, 1999;Chen et al, 2001), whereas some authors have questioned the existence of a clearly defined clinical syndrome (Yunis and Torres de Caballero, 1981;Clement et al, 1996). The distinct dysmorphic features which can be associated with duplication 10p include dolichocephaly, a high forehead with low hairline, prominent cheeks, high arched eyebrows with synophrys, hypertelorism, anteverted nostrils, long philtrum, wide and triangular mouth, broad nasal bridge, thin lips, and large low-set, posteriorly rotated ears.…”

Prenatal molecular cytogenetic diagnosis of partial tetrasomy 10p due to neocentromere formation in an inversion duplication analphoid marker chromosome

“…Although more than 60 cases of trisomy 10p have been reported (Wiktor et al, 1994;Hon et al, 1995;Clement et al, 1996;Fryns et al, 1997;Benzacken et al, 1998;Berend et al, 1999;Granata et al, 2000), this case represents not only the first report of a 10p neocentromere but also the first account of partial tetrasomy for the short arm of chromosome 10. The clinical features of the 10p syndrome include distinct craniofacial anomalies, various organ malformations, skeletal abnormalities, bilateral foot deformities, flexion abnormalities (especially talipes equinovarus), severe mental and psychomotor retardation, developmental delay, seizures, and hypotonia (Stengel-Rutkowski et al, 1977;Goodman and Gorlin, 1983;De Grouchy and Turleau, 1984). In the present case, none of the major structural abnormalities was apparent on a high-resolution ultrasound or on a fetal echocardiogram.…”