X-linked recessive

Genetics adjective Referring to a mode of inheritance, in which a gene on the X chromosome requires one copy for phenotypic expression in ♂, but 2 copies for expression in ♀; with the gene only on the X chromosome, ♀ are carriers; ♂ get the disease. Cf Autosomal dominant, Autosomal recessive.

X-linked recessive

Pertaining to a gene situated on an X chromosome which is expressed if the chromosome is carried on both X chromosomes in a female (which is necessarily rare). In males, however, the Y chromosome carries little or no genetic material and does not contain the normal ALLELE, so the gene on the X chromosome will always manifest itself. An X-linked recessive condition will thus usually occur only in males (who have one X and one Y chromosome) but cannot be transmitted by a father to his son because the son receives only the Y chromosome. The characteristic is, however, transmitted via the daughters, who are carriers. Their sons have a 50/50 chance of acquiring the X chromosome and manifesting the characteristic.

References in periodicals archive ?

In this study, we described a novel, hemizygous, missense mutation causing a conversion of the histidine residue to tyrosine in the protein sequence, at position 80th in exon 2 of AVPR2 in a 6-year-old proband with symptoms of CNDI and an X-linked recessive family pedigree.

A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

Prenatal diagnosis of DMD is crucial because this disease has the most severe clinical symptoms among X-linked recessive inherited muscular dystrophies, and no curative treatment is currently available [1].

Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive hereditary disease, which was first reported by Gedeon in 1999 [7].

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

This is an X-linked recessive disorder that share many characteristics of WS like congenital deaf-mutism, heterochromic irides, piebald like skin patches and hair hypopigmentation.3 Presence of typical facial features along with involvement of both male and female members in same generation favors autosomal inheritance thus making diagnosis of Waardenburg syndrome more likely in our series.

Waardenburg syndrome: A case series

Here we report an Omani family wherein otherwise healthy and asymptomatic parents had three male newborn babies and one maternal uncle having features of congenital bilateral VCP suggesting X-linked recessive inheritance.

Neonatal Stridor in Familial Congenital Laryngeal Paralysis (Plott Syndrome): A Case Study in an Omani Family

CGD is an X-linked recessive or autosomal recessive genetic disease.

Spectrum of imaging findings of chronic granulomatous disease: a single center experience

With reference to genotype on a single locus, there are twenty five different parent unions possible in nuclear pedigrees, six for each of autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive (6+6+6+6 = 24) and one for Y-linked inheritance pattern.

Genotype and Phenotype Probabilities by Ternary Code based Line-dot Method and Polygonal Illustrations

AI may be inherited as an autosomal dominant, autosomal recessive, or an X-linked recessive disease.

Esthetic Rehabilitation of Amelogenesis Imperfecta: A Case Report

XLRS is an retinal dystrophy characterized by splitting of the neurosensory retinal layers and X-linked recessive inheritance.

EDITORIAL

Although the majority of the cases are sporadic, cases showing autosomal dominant, recessive and X-linked recessive inheritance have also been reported.

A congenital cranial dysinnervation disorder: Mobius' syndrome

Agammaglobulinemia shows X-linked recessive pattern [6].

Inflammatory Duodenal Polyposis Associated with Primary Immunodeficiency Disease: A Novel Case Report

X-linked ichthyosis (XLI) is an X-linked recessive disorder with a prevalence of approximately 1:4,000, demonstrating dry, scaly skin due to a deficiency of the enzyme steroid sulfatase [1].

Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature