We present the clinical and cytogenetic findings in an 8 year old girl with mental retardation,
no speech, acquired microcephaly, delayed motor skills and stereotypical hand movements …

We report on an 11 year old girl with trichorhinophalangeal syndrome type I (TRPS1),
postaxial polydactyly of the fingers, and a de novo paracentric inversion on the long arm of …

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major
brain malformation. A total of 8 children have been reported who share most of these …

Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Instead of
trisomy 12q that has been reported as a clinically identifiable syndrome, monosomy 12p is …

A female infant survived 5½ hours after delivery at 33 weeks gestation. Autopsy showed a
lobar variant of holoprosencephaly (HPE). Cytogenetic analysis revealed a 2q37. 1→ 2q37 …

We describe a newborn male with a constitutional deletion of proximal chromosome 20p
involving band p11. 2. The phenotype included panhypopituitarism, craniofacial …

We report 22 patients with normal neuropsychological development and a
holoprosencephaly‐like (HPE‐like) phenotype screened for SHH, SIX3, TGIF, and GLI2 …

Two unpublished cases with partial tandem duplication of 12p and one previously published
case were studied by fluorescence in situ hybridization using 11 cosmid DNA probes from …

Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of
distinct clinical conditions. Most of them share a number of manifestations, such as mental …

We report on a case with a partial monosomy for the regions 9p23→ pter and 13p11→ pter
as a result of a de novo translocation (9p23; 13p11). The patient, a 16‐year‐old girl, has …