Chromosomal abnormalities associated with congenital contractures (arthrogryposis)

Abstract

In a study of 350 patients with multiple congenital contractures (arthrogryposis), 80 (23%) patients had mental retardation or were developmentally delayed. Out of that group of 80 patients, 13 (16%) were found to have abnormal karyotypes. Two of the thirteen had a family history of chromosomal abnormalities without congenital contractures, therefore, 11 patients had chromosomal anomalies which appeared to be associated with the congenital contractures. Five of the eleven (45%) had chromosome mosaicism, three of those had tissue mosaicism. Two had abnormal skin fibroblast cell lines and normal peripheral leukocyte chromosome studies and one had a normal bone marrow karyotype with abnormal peripheral leukocyte chromosome studies. Chromosome studies were done in these patients with congenital contractures because of developmental delay and multisystem involvement, or recognition of clinical features typical of a chromosomal syndrome. We recommend first lymphocyte; and if those are normal, then fibroblast studies be done on all patients with multiple joint contractures and developmental delay, particularly if unusual facial features or multisystem abnormalities are present.

Fetal trisomy 5 mosaicism: Case report and literature review

“…It is therefore possible that trisomy 5 mosaicism could be an example of tissue‐limited mosaicism with the abnormal cell line surviving in some somatic tissues but not in others. The case described by Reed et al 1985 exemplifies this point. In fact the trisomy 5, mosaicism observed in a 4‐year‐old boy with multiple congenital abnormalities and mental retardation, was present in 25% of the analyzed fibroblasts whereas the karyotype on peripheral blood was normal.…”

Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN )

“…Severity of the AMC phenotype is heterogeneous ranging from limited limb involvement to more extensive neurologic deficits including central nervous system impairment. AMC has been associated with chromosomal abnormalities (Reed, Hall, Riccardi, Aylsworth, & Timmons, 1985), mitochondrial disorders (von Kleist-Retzow et al, 2003), and sporadic and inherited mutations in more than 220 genes, including genes that regulate central nervous system development (neuronal axonogenesis, Schwann and glial cell development), skeletal muscle, synaptic transmission, and glycoprotein metabolism (Bayram et al, 2016;Hall & Kiefer, 2016;Narkis, Landau, Manor, Ofir, & Birk, 2007). Recently, the first association of biallelic GLDN (MIM# 608603) mutations with a lethal form of AMC (LCCS11; MIM# 617194) was reported in four unrelated families (Maluenda et al, 2016).…”

The Clinic Is My Laboratory: Life as a Clinical Geneticist

“…During the 1980s, major progress was made on distinguishing various types of arthrogryposis (16,24,33,35,37,126). Our group (as did many others) published many clinical descriptions of new syndromes and conditions.…”