Biomedical subjects
Publications and source records attributed to R A Pfeiffer.
The authors report a case of a deletion at 12p13.1-13.3. Only one similar observation was published [16]. The infant is mildly retarded and shows unilateral ectrodactyly.
Cleft sternum is a rare malformation, either superior, inferior or total, which is frequently associated with supraumbilical raphé. Such a case is reported. Sometimes cavernous hemangiomata are noted. It occurs subsequent to disturbances of abdominal wall midline fusion. The etiology is unknown. The recurrence risk is probably nil, but one familial case must be taken into consideration.
We report on a male infant with Brachmann-de Lange syndrome (BDLS) and ulnar hemimelia and monodactyly but also absence of both tibiae, the right distal femur being bifurcated. One similar observation was published earlier. The question is raised whether these malformations are coincidental or a rare component of BDLS.
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We report on a retarded infant with minor dysmorphic features in whom deletion 16 and duplication 19q were discovered. The karyotype is 46,XX,del(16) (q13.08-21.05),dup(19)(q13.13-13.2). The origin and significance of the aberrant chromosomes are unknown.
The authors report a dysmorphic child with a duplication dir (11)(23-ter) the mildly retarded mother of which is a mosaic for the same abnormality. Similar partial trisomies from the literature all associated with a deficiency of any other autosome are reviewed. While a general karyotype-phenotype correlation is not stringent the patients share many dysmorphic features.
The observation of a mentally retarded 15 months old male infant with a deletion of 9q22q2207 is compared with similar cases published between 1973 and 1991. Facial dysmorphism and abnormalities of the larynx, brain and heart suggest a particular phenotype. The critical region may be at 9q22.
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A 7 year old girl in whom an interstitial deletion of the short arm of a chromosome no. 4 had been discovered [46, XX, del(4)(p15.2p16)] is moderately retarded and exhibits some mild craniofacial dysmorphies. Cardiological examination revealed a PDA and an ASD. From seven similar cases published up to now a typical phenotype cannot be concluded. Dermatoglyphics show a remarkable frequency of digital arches but the diagnostic significance is questioned by this observation.
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