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10.1002/ajmg.1320270116.abs Melnick‐Needles syndrome is an X‐linked dominant trait, lethal in males. There are three well‐documented lethal examples of the disorder in the offspring of affected females and three examples in males born to normal parents who represent new mutations.
10.1002/ajmg.1320270113.abs In humans pericentric inversions are rare structural chromosome abnormalities. Reproductive consequences of inversion heterozygosity depend upon many variables such as the chromosomes involved, the location of breakpoints, frequency of crossovers in the inverted...
10.1002/ajmg.1320270115.abs We have generated percentiles for the pattern variability index (σz) of the hand in 1,088 normal infants, children, and adults and have analyzed pattern variability indices for 820 individuals representing 50 congenital malformation syndromes with respect to the...
10.1002/ajmg.1320270104.abs We report on a noninbred girl with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEC, syndactyly, and other findings. Her mother had minor anomalies which could...
10.1002/ajmg.1320270120.abs We report on a male with trisomy Xq resulting from an isochromosome Xq which is preferentially inactivated: 47,XY, + i(Xq). Six previous cases have been reported. These patients are similar to patients with classical Klinefelter syndrome (47,XXY) in that they have...
10.1002/ajmg.1320270125.abs We analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of...
10.1002/ajmg.1320270110.abs Six individuals with Proteus syndrome have been investigated; 2 were adults and the others ranged in age from 2 to 11 years. They had a wide spectrum of manifestations and severity together with the hitherto unreported anomalies of penile hypertrophy,...
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