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10.1002/ajmg.1320030106.abs The oculocerebrofacial syndrome was described from siblings of both sexes in 1971 by Kaufman. A 12‐year‐old child with a set of corresponding malformations is described. This would suggest that the original report did not describe a “private” syndrome.
10.1002/ajmg.1320030110.abs In a routine cytogenetic investigation of the outpatients of a hospital for the mentally retarded, a 26‐year‐old woman with a presumptive interstitial deletion of the short arm of one of the X chromosomes was found. The same aberration was found in her...
10.1002/ajmg.1320030112.abs We describe a syndrome identified in three consanguineous families who had two and probably four common ancestors five generations ago. The syndrome is characterized by profound dysfunction of the central nervous system, silver‐leaden colored hair, abnormal...
10.1002/ajmg.1320030109.abs Nine members of four generations of a kindred had an autosomal dominant syndrome in which congenital scalp defects were associated with abnormalities of the hands and feet. Radiographically apparent, circumscribed defects of the skull were an additional inconsistent...
10.1002/ajmg.1320030113.abs The properties of the maximum likelihood estimator (MLE) of the recombination fraction, Θ, based on various numbers and sizes of sibships derived from double backcross matings are exactly explored where the coupling phases are presumed equally likely (which for...
10.1002/ajmg.1320030114.abs Seven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal...
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