Related Experiment Video
Updated: May 28, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus
G Stoppoloni1, M Stabile, M M Rinaldi
1Dipartimento di Pediatria, I Facoltà di Medicina, Università di Napoli, Italy.
Abstract:
The authors report on five cases of Seckel syndrome type I primordial dwarfism, belonging to three unrelated sibships. Immunological and cytogenetic investigations with DEB test did not evidence immunodeficiency or chromosomal fragility. HLA phenotype studies revealed an identical haplotype in affected sibs: a possible linkage with HLA is therefore suggested. Cranial magnetic resonance was performed in three patients and did not evidence any anomaly. One affected female showed precocious puberty at 7 years of age.
Related Concept Videos
Pedigree Analysis
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Incomplete Dominance
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Sex Linked Disorders

