A child with radius aplasia, cleft of lip and palate, microcephaly, and unusual chromosome findings
Merlin G. Butler,Laura J. Russell,Catherine G. Palmer,Marilyn J. Bull,Marion E. Hodes,John M. Opitz +5 more
TLDR
In this paper, a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft of lip and palate, who was mosaic for a chromosome marker and/or ring of unknown origin was reported.Abstract:
We report a child with malformation syndrome of microcephaly, asymmetrical radius aplasia, and cleft of lip and palate, who was mosaic for a chromosome marker and/or ring of unknown origin. In view of the reported cases of limb deficiency with chromosome abnormalities and the unlikelihood that the patient has a recognized genetic syndrome, the cause of the patient's syndrome may well be the extra chromosomal material.read more
Citations
More filters
Journal ArticleDOI
Further delineation of Frank-ter Haar syndrome.
TL;DR: The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers.
Book ChapterDOI
Fanconi Anemia in The Netherlands
M. L. Kwee,L. P. Kuyt +1 more
TL;DR: This study evaluated the intrafamilial and interfamilial variability of the clinical, hematological, and cytogenetic findings in the patients of Fanconi anemia to determine the most useful diagnostic symptoms and signs postnatally as well as prenatally.
References
More filters
Journal ArticleDOI
Cytogenetic findings in Roberts‐SC phocomelia syndrome(s)
TL;DR: Four patients with similar phenotypic manifestations have recently been shown in the laboratory to have the same centromere puffing and splitting, including four patients with other clinical manifestations in common.
Journal ArticleDOI
Roberts' syndrome.I. Cytological evidence for a disturbance in chromatid pairing
TL;DR: In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister‐chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences.
Journal ArticleDOI
The SC phocomelia and the Roberts syndrome: Nosologic aspects
Jürgen Herrmann,John M. Opitz +1 more
TL;DR: In this article, the authors reviewed the SC phocomelia syndrome (SCS) and the Roberts syndrome (RS) to demonstrate techniques of nosologic analysis based primarily on the phenotype analysis.
Journal ArticleDOI
Variable Expression of the Holt-Oram Syndrome
Robert L. Kaufman,Robert L. Kaufman,David L. Rimoin,David L. Rimoin,William H. McAlister,Alexis F. Hartmann,Alexis F. Hartmann +6 more
TL;DR: Three families are described that illustrate the wide variability of expression of both the cardiovascular and upper-extremity abnormalities in the Holt-Oram syndrome.
Journal ArticleDOI
The SC phocomelia syndrome: Report of two cases with cytogenetic abnormality
TL;DR: Ch Chromosome analyses in both patients showed heterochromatic puffing and centromere separation involving many chromosomes, an observation that has previously been reported in patients with SC phocomelia and Roberts syndromes.