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A de novo tandem inverted duplication of 10p was diagnosed in a 17‐week fetus. The appearance of GTG banded preparations and the results of fluorescence in situ hybridization (FISH) studies are consistent with duplication of the entire arm, including the telomere. The FISH studies also demonstrated the presence of chromosome 10 alphoid repeats at the junction between the inverted segment and the long arm, consistent with the presence of the entire long arm of the abnormal chromosome. Therefore, this is a case of pure trisomy 10p without an associated deficiency of any other chromosome segment. A comparison of the phenotype associated with pure trisomy 10p and trisomy associated with a duplication/deficiency state documented a higher frequency (of borderline significance) of clubfoot and high‐arched/cleft palate in the cases of pure trisomy. The frequency of palatal anomalies was observed to be significantly higher in the cases where the breakpoint of the trisomic segment is in the most proximal band (10p11). However, other clinical manifestations were observed inconsistently, even in the cases with pure, nearly complete trisomy 10p. Therefore, a clearly defined trisomy 10p clinical syndrome could not be documented in this study. © 1996 Wiley‐Liss, Inc.
A de novo tandem inverted duplication of 10p was diagnosed in a 17‐week fetus. The appearance of GTG banded preparations and the results of fluorescence in situ hybridization (FISH) studies are consistent with duplication of the entire arm, including the telomere. The FISH studies also demonstrated the presence of chromosome 10 alphoid repeats at the junction between the inverted segment and the long arm, consistent with the presence of the entire long arm of the abnormal chromosome. Therefore, this is a case of pure trisomy 10p without an associated deficiency of any other chromosome segment. A comparison of the phenotype associated with pure trisomy 10p and trisomy associated with a duplication/deficiency state documented a higher frequency (of borderline significance) of clubfoot and high‐arched/cleft palate in the cases of pure trisomy. The frequency of palatal anomalies was observed to be significantly higher in the cases where the breakpoint of the trisomic segment is in the most proximal band (10p11). However, other clinical manifestations were observed inconsistently, even in the cases with pure, nearly complete trisomy 10p. Therefore, a clearly defined trisomy 10p clinical syndrome could not be documented in this study. © 1996 Wiley‐Liss, Inc.
It was recently shown that hand postaxial polydactyly differed from foot postaxial polydactyly. The aim of this work was to test whether thumb and hallux duplication also had different clinical and epidemiological characteristics, depending on limb involvement. We studied 920 newborn infants with first digit duplication, ascertained among 3,444,374 births by the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), from 1967 to 1995. Since biphalangeal thumb duplication or hallux duplication can occur in families with triphalangeal thumb or polysyndactylous propositi, these groups were also analyzed. The 715 isolated (nonsyndromal) cases (prevalence 2.08 per 10,000) were subdivided into five groups: thumb duplication (N = 568; prevalence: 1.65/10,000); hallux duplication (N = 82; prevalence: 0.24); thumb and/or hallux duplication plus syndactyly (polysyndactyly) (N = 37; prevalence: 0.11); triphalangeal thumb (N = 24; prevalence: 0.07), and thumb duplication plus hallux duplication (N = 4; prevalence: 0.01). Both thumb and hallux duplication groups showed a significant excess of males, and right sidedness was also more frequent in both of them, though without statistical significance for hallux duplication. Thumb duplication was more often unilateral (94.7% versus hallux duplication of 81.5%), and its prevalence was higher in Bolivia (3.37/10,000) than in the other 10 Latin-American countries included (1.62/10,000). In a subseries of 405 preaxial polydactylies with matched controls, a logistic regression analysis showed that birth weight and gestational age had an effect on the calculated risk of having an infant with thumb duplication, while first trimester vaginal bleeding had only a borderline effect. None of the polydactyly groups showed abnormal values for twinning, perinatal mortality, ethnicity, maternal education, parental ages, parity, parental subfertility, or consanguinity. There were 70/405 familial cases. Their pedigrees were compatible with autosomal dominant inheritance with a 9% penetrance for thumb duplication and hallux duplication and a 70% penetrance for triphalangeal thumb and polysyndactyly. Inheritance of thumb duplication and probably the untested inheritance of hallux duplication were also compatible with a four-locus multiplicative model. The observed differences in laterality, geographical distribution, birth weight, gestational age, and first trimester vaginal bleeding between thumb duplication and hallux duplication groups suggested that apparent preaxial polydactyly type 1 is a causally heterogeneous group.
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