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214 Possible Causes for Short Stature - Deletion Patients

  • Psychomotor Retardation

    A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.[icd10data.com] Most de lange syndrome patients have normal chromosomes.[icd10data.com] A genetic syndrome caused by deletions or disruptions of chromosome 15.[icd10data.com]

  • Microcytic Anemia

    […] phenotype, SCRIB for coloboma and renal defects and PUF60 for the craniofacial, short stature and cardiac phenotype. 8 Our five additional patients carrying a de novo heterozygous[nature.com] […] showed, in an elegant manner using morpholino experiments in zebrafish, that PUF60 and SCRIB (a gene contiguous to PUF60 ) could be considered the main drivers of the 8q24.3 deletion-associated[nature.com]

  • Growth Hormone Deficiency

    To determine whether complete gene deletions such as those reported for LWD also occurred in patients with short stature, DNA samples from 150 patients were analyzed by FISH[dx.doi.org] Binder et al. ( 15 ) performed fluorescence in situ hybridization (FISH) and described 1 in 68 patients with short stature and a deletion of the SHOX gene.[dx.doi.org] This study addresses the question of the incidence and type of SHOX mutations in patients with short stature.[dx.doi.org]

  • Mental Retardation

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild[ncbi.nlm.nih.gov]

  • Familial Short Stature

    Morizio E et al. (2003) Deletion of the SHOX gene in patients with short stature of unknown cause. [ ] 5.[moldiag.com] Otherwise, SHOX gene mutations were observed at 2–5% of patients with idiopathic isolated short stature [ 63 – 65 ].[intechopen.com] Rappold GA et al. (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. [ ] 4.[moldiag.com]

  • Isolated Congenital Sclerocornea

    Thus, our patient appears to have the largest Xp22 deletion in molecularly defined MLS patients.[slideheaven.com] […] disorder, short stature, prominent antihelices, hypoplastic nails, and precocious/early puberty.[profiles.stanford.edu] Our second patient is a 7-year-old boy with a 4.8Mb deletion also at 9p13.3-9p13.1.[stanfordchildrens.org]

  • Cleft Palate

    […] and provides new insight into a gene possibly involved in short stature.[ncbi.nlm.nih.gov] Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome.[ncbi.nlm.nih.gov] In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Prognathism

    […] in patients with a deletion in chromosome 17.[disorders.eyes.arizona.edu] For example, those with RAI1 mutations tend to be obese and are less likely to exhibit short stature, cardiac anomalies, hypotonia, hearing loss and motor delays than seen[disorders.eyes.arizona.edu]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    All patients have some degree of cognitive impairment. Hypogonadism, short stature, and characteristic behaviors are also common.[chginc.org] PWS is caused by a deletion or disruption of the paternal SNRPN gene region.[chginc.org]

  • Pituitary Adenoma

    Third, short stature has been reported in several patients with deletions in this region, which suggests that the absence of these genes may lead to the opposite phenotype[doi.org]

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