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Updated: Jul 15, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

A syndactyly type IV locus maps to 7q36.

Daisuke Sato^1,2,3, Desheng Liang^1,2,4, Lingqian Wu^5,6,7

¹Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

Journal of Human Genetics

|May 4, 2007

Summary

Syndactyly type IV (SD4) is a rare limb malformation. This study mapped the SD4 locus to chromosome 7q36 in a Chinese family, providing clues for gene identification and limb development research.

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Published on: December 1, 2017

Area of Science:

Genetics
Developmental Biology
Clinical Genetics

Background:

Syndactyly is a congenital limb abnormality, often syndromic, with known genetic loci for types I, II, III, and V.
Syndactyly type IV (SD4) is exceptionally rare, characterized by complete finger fusion, polydactyly, and a cup-shaped hand, with its genetic basis unassigned.

Purpose of the Study:

To map the gene responsible for autosomal dominant, non-syndromic syndactyly type IV (SD4) in a Chinese family.
To identify candidate genes and understand the genetic underpinnings of human limb development.

Main Methods:

Linkage and haplotype analysis were performed on a Chinese family exhibiting SD4.
A set of 406 microsatellite markers was utilized for genetic mapping.
Candidate genes (LMBR1, SHH, ZRS) were analyzed for pathogenic mutations.

Main Results:

The SD4 locus was provisionally assigned to a 17.39-cM region on chromosome 7q36, between markers D7S3070 and D7S559.
A maximum two-point LOD score of 1.613 was obtained, suggesting linkage but requiring further validation.
No pathogenic mutations were found in the candidate genes LMBR1, SHH, and ZRS.

Conclusions:

The study provides a potential chromosomal localization for the SD4 gene, guiding future gene discovery efforts.
This research contributes to understanding the genetic basis of syndactyly and normal human limb development.
Further studies are needed to confirm the locus and identify the causative gene for syndactyly type IV.