By Roger E. Stevenson

The Atlas of X-Linked highbrow incapacity Syndromes is a accomplished and updated precis of the clinically unique issues because of genes at the X chromosome. medical and laboratory information on one hundred fifty syndromes are provided in a concise and constant demeanour. every one syndrome is outlined and data is supplied on somatic gains, development and improvement, neurological indicators, cognitive functionality, imaging and different laboratory findings, and while attainable, the character and localization of the liable gene. Craniofacial and different somatic findings are generally illustrated. A differential matrix accompanies each one syndrome description to aid the reader in selecting different X-linked syndromes with overlapping positive aspects. person syndrome entries are supplemented with nineteen appendices that determine syndromes with universal good points and supply the positioning or mapping limits and serve as of the accountable genes.

The authors have wide event within the medical and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, domestically mapped disorder loci at the X chromosome, and pointed out the genes answerable for X-linked syndromes.

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Am J Med Genet 17:375, 1984. : Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. Am J Med Genet 94:383, 2000. : Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation. J Med Genet 34:465, 1997. : X-linked α-thalassemia/ mental retardation: spectrum of clinical features in three related males. J Med Genet 28:738, 1991. 35 D I F F E R E N T I A L M AT R I X Microcephaly Hypotonic Facies Urogenital Anomalies ATRX-Associated XLID + + + Short stature, telecanthus, small triangular nose, tented upper lip, open mouth, wide spacing of teeth, genital anomalies, musculoskeletal anomalies, hemoglobin H inclusions in erythrocytes Proud (ARX-Associated XLID) + + + Hearing loss, vision loss, agenesis of corpus callosum, cryptorchidism, inguinal hernias, ataxia, spasticity, seizures Smith-Fineman-Myers + + 0 Ptosis, flat philtrum, scoliosis, midfoot varus, narrow feet, seizures, hypotonia Coffin-Lowry + + 0 Short stature, hypertelorism, anteverted nares, tented upper lip, prominent lips and large mouth, large ears, soft hands with tapered digits, pectus carinatum Miles-Carpenter + + 0 Short stature, ptosis, small palpebral fissures, open mouth, pectus excavatum, scoliosis, long hands, camptodactyly, rockerbottom feet, arch fingerprints, spasticity, unsteady gait Vasquez + 0 + Short stature, gynecomastia, obesity, hypotonia, hypogonadism XLID-Hypospadias + 0 + Trigonocephaly, synophrys, beaked nose, dysplastic ears, joint hyperextensibility, hypotonia XLID-MicrocephalyTesticular Failure + 0 + Short stature, prominent supraorbital ridges, high nasal bridge, prominent nose, macrostomia, hypogonadism XLID-Psoriasis 0 + + Hypertelorism, strabismus, large ears, macrostomia, psoriasis, seizures Syndrome 36 Comments ATL AS OF X-LINKED INTELLEC TUAL DISABILIT Y SY NDROMES BERGIA CARDIOMYOPATHY ( X- L INK ED FA MIL IA L L E T H A L CA RDIOM YOPAT H Y ) Definition.

Diagnostic confirmation depends on mutational analysis of the responsible gene. Comment. Although the first cases of Alpha-Thalassemia Intellectual Disability syndrome were ascertained because of mild hematologic abnormalities, subsequent cases were identified because of somatic manifestations. Four other named XLID syndromes (Chudley-Lowry, CarpenterWaziri, Holmes-Gang, and XLID-Arch FingerprintsHypotonia syndromes) have been shown to have mutations of ATRX, as have individuals with intellectual disability and spastic paraplegia and individuals with nonsyndromal XLID.

Muscle hypertrophy does not occur; rather, muscles show progressive wasting. Early childhood development milestones may be achieved at the usual times. Cognitive Function. Impairment of cognitive function is first noted at age 5 to 6 years and may be progressive. A B C D Bergia Cardiomyopathy. Chest radiograph of 17-year-old male showing cardiomegaly (A). Light microscopy of quadriceps biopsy revealing variable fiber size and shape and internalization of nuclei (B); electron microscopy of quadriceps showing increased lysosomes [L] containing necrotic fibers (C); light microscopy of left ventricle with increased interstitial connective tissue and fibrosis [S] (D).

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Atlas of X-Linked Intellectual Disability Syndromes by Roger E. Stevenson
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