PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 8699344

Genetics of split hand and split foot. A case study.

B D Caldwell
View original source ↗Export metadata ↓

Abstract

Split hand and split foot is an autosomal dominant disorder that displays several genetic phenomena. These include variable expressivity, reduced penetrance, and segregation distortion. Although not fully understood at the molecular level, all are important in determining transmission of the gene thought to be mapped to the long arm of chromosome 7 (7q21.3-q22.1). These phenomena, therefore, have significant implications for inheritance of split hand and split foot and for proper referral for genetic counseling.

Explore related subjects

Chromosome AberrationsChromosome DisordersChromosome MappingChromosomes, Human, Pair 7FemaleFoot Deformities, CongenitalGenetic LinkageHand Deformities, CongenitalHumansMaleMiddle AgedPedigreeCase ReportsJournal Article

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

B D Caldwell. 1996. Genetics of split hand and split foot. A case study.. https://doi.org/10.7547/87507315-86-6-244

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2007

Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.

Non-isolated congenital diaphragmatic hernia (CDH+) is a severe birth defect that is often caused by de novo chromosomal anomalies. In this report, we use genome-wide oligonucleotide-based array comparative genome hybridization (aCGH) followed by rapid real-time quantitative PCR analysis to identify, confirm and map chromosomal anomalies in a cohort of 26 CDH+ patients. One hundred and five putative copy number changes were identified by aCGH in our cohort of CDH+ patients. Sixty-one of these changes (58%) had been previously described in normal controls. Twenty of the remaining 44 changes (45%) were confirmed by quantitative real-time PCR or standard cytogenetic techniques. These changes included de novo chromosomal abnormalities in five of the 26 patients (19%), two of whom had previously normal G-banded chromosome analyses. Data from these patients provide evidence for the existence of CDH-related genes on chromosomes 2q37, 6p22-25 and 14q, and refine the CDH minimal deleted region on 15q26 to an interval that contains COUP-TFII and only eight other known genes. Although COUP-TFII is likely to play a role in the development of CDH in patients with 15q26 deletions, we did not find COUP-TFII mutations in 73 CDH samples. We conclude that the combination of oligonucleotide-based aCGH and quantitative real-time PCR is an effective method of identifying, confirming and mapping clinically relevant copy number changes in patients with CDH+. This method is more sensitive than G-banded chromosome analysis and may find wide application in screening patients with congenital anomalies.

Chromosome Aberrations↗
PubMed2007

Cytogenetics detects infiltrations of a primary cutaneous acute myeloid leukemia to the kidney.

Extramedullary manifestations of acute myeloid leukemia (AML) are rare and commonly involve one tissue. We report of a cutaneous acute myelomonocytic leukemia infiltrating the kidney next to the skin. A 61-year-old female patient with complex karyotype cutaneous AML FAB M4 underwent abdominal computed tomography scans. A lesion in her left kidney appeared suspicious of renal carcinoma as confirmed by histology. However, fluorescence in situ hybridization cytogenetics revealed a chromosome 11q23 abnormality in the nephrectomy specimen, which also appeared in the leukemic blasts of skin and bone marrow. Closer histomorphologic workup revealed an infiltration of the kidney with leukemia. This case report illustrates how modern diagnostic procedures can help to reveal rare sites of disease.

Chromosome Aberrations↗
PubMed2007

Genetic aspects of preeclampsia.

Preeclampsia has a familial component suggesting that one or more common alleles may act as susceptibility genes. Some families may have "private" predisposing mutations. The central role of the placenta in the pathogenesis of preeclampsia implies that fetal genes contribute to the disease process. Twin studies support the role of maternal and fetal gene interaction. Candidate gene studies have not yielded consistent results. Genome-wide linkage studies provide powerful means to study disease susceptibility genes, and several loci have been mapped. Parent-of-origin effect of the STOX1 gene has been suggested on chromosome 10q22 locus in the Dutch population. Maternally inherited missense mutations in the STOX1 gene of the fetus have been shown to co-segregate with the maternal preeclamptic phenotype. Up-regulation of placental leptin expression has been found in several studies and might be of importance in the pathogenesis of preeclampsia. DNA microarray is ideal tool for screening gene expression in preeclamptic tissues, but critical attitude is needed when interpreting the results. The placental DNA and mRNA in maternal plasma hold great promise as novel biomarkers for the prediction of preeclampsia. Finding genes prediposing to preeclampsia will enhance our understanding of the disease mechanism, and might allow identification of prognostic and therapeutic subgroups.

Chromosome Aberrations↗