Wolf–Hirschhorn syndrome (WHS) is a chromosomal deletion syndrome resulting from a partial deletion on the short arm of chromosome 4 [del(4)(p16.3)]....
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deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome. The chromosomal...
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Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
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Turner syndrome (TS), commonly known as 45,X, or 45,XO, is a chromosomal disorder in which cells have only one X chromosome or are partially missing an...
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hedgehog syndrome Wolcott–Rallison syndrome Wolff–Parkinson–White syndrome Wolfram syndrome Wolf–Hirschhorn syndrome Woodhouse–Sakati syndrome Work-related...
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expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal...
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Deletion of LETM1 is thought to be involved in the development of Wolf–Hirschhorn syndrome in humans. LETM1-like protein family GRCh38: Ensembl release 89:...
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Usher syndrome Waardenburg syndrome Werner syndrome Wolf–Hirschhorn syndrome Wolff–Parkinson–White syndrome ICD-10 Chapter Q: Congenital malformations...
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Deletion of LETM1 is thought to be involved in the development of Wolf-Hirschhorn syndrome in humans. A member of this family, SWISSPROT, is known to be expressed...
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Wolff–Parkinson–White syndrome Wolf–Hirschhorn syndrome Wolfram syndrome Wolman disease Woodhouse–Sakati syndrome Woods–Black–Norbury syndrome Woods–Leversha–Rogers...
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93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal...
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Birth defect (redirect from Congenital syndrome)
the prevalence of fetal alcohol syndrome. A summary". Alcohol Res Health. 25 (3): 159–67. PMC 6707173. PMID 11810953. De Santis, Marco; Cesari, Elena; Cavaliere...
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humans include Wolf–Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the...
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Pierre-Robin syndrome Isotretinoin-like syndrome Kabuki syndrome Keppen-Lubinsky syndrome Knobloch syndrome 2 Langer-Giedion syndrome Larsen-like syndrome, B3GAT3...
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found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in...
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Fryns-Aftimos syndrome (also known as Baraitser-Winter syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe...
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Microcephaly (redirect from Merlob syndrome)
4p deletion (Wolf–Hirschhorn syndrome) 5p deletion (Cri-du-chat) 7q11.23 deletion (Williams syndrome) 22q11 deletion (DiGeorge syndrome) Single gene defects...
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deletions such as DiGeorge syndrome, 1p36 deletion, Cri-du-chat syndrome, Wolf-Hirschhorn syndrome, Prader-Willi and Angelman syndromes, positive results can...
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humans is encoded by the WHSC1L1 gene. This gene is related to the Wolf–Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP...
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List of genetic disorders (redirect from List of genetic syndromes)
PMID 30031689. Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger...
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List of geneticists (section Da–De)
phylogenetic tool Ulrich Wolf (1933–2017), German cytogeneticist, found chromosome 4p deletion in Wolf–Hirschhorn syndrome Barnet Woolf FRSE (1902–1983)...
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(XXX) syndrome XYY syndrome Pallister–Killian syndrome Wolf–Hirschhorn syndrome Cri-du-chat syndrome WAGR syndrome DiGeorge syndrome Fragile X syndrome -...
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rejection Autoimmune disorder Coeliac disease Lupus Antiphospholipid antibody syndrome Anti-thyroid autoantibodies Placenta abnormality Previous miscarriage Eating...
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known as homeobox 7, have also been associated with Witkop syndrome, Wolf–Hirschhorn syndrome, and autosomal dominant hypodontia. Haploinsufficiency of...
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and bone development, and a "caved-in" appearance to the chest. Wolf–Hirschhorn syndrome, caused by partial deletion of the short arm of chromosome 4. It...
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risk of miscarriage, including diabetes, endometriosis, polycystic ovary syndrome (PCOS), hypothyroidism, certain infectious diseases, and autoimmune diseases...
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nonhomologous chromosomes). Polysomy is found in many diseases, including Down syndrome in humans where affected individuals possess three copies (trisomy) of...
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List of skin conditions (category CS1 German-language sources (de))
syndrome, Windmill–Vane–Hand syndrome) Wilson–Turner syndrome Wolf–Hirschhorn syndrome (4p- syndrome) X-linked ichthyosis (steroid sulfatase deficiency, X-linked...
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of the Year named after the late Cody Dorman who was born with Wolf-Hirschhorn Syndrome, he lived a long life until he died from the same disease on November...
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Christopher Cross (category CS1 German-language sources (de))
Physicians told him his illness triggered an episode of Guillain–Barré syndrome that caused the nerves in his legs to stop functioning properly. By October...
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