Aliases & Classifications for Dauwerse-Peters Syndrome MalaCards integrated aliases for Dauwerse-Peters Syndrome: Name: Dauwerse-Peters Syndrome 57 53 Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 57 73 Short Stature, Facial [malacards.org]

Names and Terminology Other Names : Short stature, facial dysmorphism, severe brachydactyly and syndactyly ... Source: GARD (NIH) 1 ... ... [familydiagnosis.com]

Gudrun ; Mortier, Geert R ; Breuning, Martijn H ; Peters, Dorien JM Keywords: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, brachydactyly-syndactyly, O-acetyl transferase, MBOAT, t(4;6), MBOAT1, short [lirias.kuleuven.be]

Dauwerse et al. (2007) described a 35-year-old male of Indonesian descent who presented with short stature and infertility due to azoospermia. [omim.org]

stature Deafness, femoral epiphyseal dysplasia, short stature and developmental delay - See Deafness, epiphyseal dysplasia, short stature Deafness, isolated, due to mitochondrial transmission Deafness, myopia, cataract, saddle nose-Marshall type - See [herenciageneticayenfermedad.blogspot.com]

An interstitial submicroscopic deletion of this region is found in approximately 12 % of the patients, using two-color FISH and the cosmid RT1 (D16S237). [atlasgeneticsoncology.org]

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. [atlasgeneticsoncology.usal.es]

Of the microdeletions discovered, the detections were made by FISH and cosmic probes, which has become the state-of-the-art objective confirmation of clinical diagnosis in new patients (Breuning et al, 1993). [slideshare.net]

Fluorescent in situ hybridization (FISH) to determine presence of SRY gene on X chromosome of patient was planned but patient could not get it done due to financial constraints. Click here to download Figure 3 Figure 3. Karyotyping of patient. [asean-endocrinejournal.org]

1994] by FISH analysis using RT1 cosmid probe (provided byLyden University) including CBP, but molecular studies to TABLE I. [fdocument.pub]

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. [atlasgeneticsoncology.usal.es]

Gene Name CREBBP (CREB binding protein) Location 16p13.3 Protein FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. [atlasgeneticsoncology.org]

FISH studies in 45 patients with Rubinstein-Taybi syndrome:deletions associated with polysplenia, hypoplastic left heart and death in infancy. European Journal of Human Genetics: 748-56, 1999 Oct-Nov. Berry, A.C.: Rubinstein-Taybi syndrome. [slideshare.net]

[…] disease Dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency Dehydrated hereditary stomatocytosis Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema Dejerine Roussy syndrome (former) - See Central pain [herenciageneticayenfermedad.blogspot.com]

The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. [ndltd.ncl.edu.tw]

At our center, a group of 14 psychologists provides longitudinal therapy to cope with the many stages of treatment and lays the foundations for the fight against pains of repeated offenses in the social and school environment. [scielosp.org]

(Br J Ophthalmol 2000;84:1177–1184) PATIENTS Rubinstein-Taybi syndrome (RTs) is a well known mental retardation—multiple congenital anomalies syndrome, first described in 1957, but well delineated by Rubinstein and Taybi in 1963.1 The incidence has been [zdoc.site]

Summary RSTS is an extremely rare multiple congenital anomaly/intellectual disability syndrome, with an estimated prevalence of one case per 125,000 live births. [ijponline.biomedcentral.com]

The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. [ndltd.ncl.edu.tw]

Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome. Korean J Pediatr. 2012; 55 :212–14. doi: 10.3345/kjp.2012.55.6.212. [ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ] 53. [ncbi.nlm.nih.gov]

Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome. Korean J Pediatr. 2012;55:212–14. PubMed Central PubMed View Article Google Scholar Bayle P, Bazex J, Lamant L, Lauque D, Durieu C, Albes B. [ijponline.biomedcentral.com]

Dysmorphism, Severe Brachydactyly and Syndactyly 53 Classifications: Summaries for Dauwerse-Peters Syndrome MalaCards based summary : Dauwerse-Peters Syndrome, is also known as short stature, facial dysmorphism, severe brachydactyly, and syndactyly. [malacards.org]

Names and Terminology Other Names : Short stature, facial dysmorphism, severe brachydactyly and syndactyly ... Source: GARD (NIH) 1 ... ... [familydiagnosis.com]

Identification of the transferred acyl group and the target may reveal the signaling pathways altered in this novel brachydactyly-syndactyly syndrome. [lirias.kuleuven.be]

He had extreme brachydactyly of both hands and to a lesser degree of both feet, and had partial cutaneous syndactyly between the second and third fingers on his right hand. [omim.org]

222600 Diastrophic Dysplasia; DTD OMIM:222690 Dibasic Amino Aciduria I OMIM:222730 Dicarboxylic Aminoaciduria; DCBXA OMIM:188400 DiGeorge Syndrome; DGS OMIM:601362 Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 OMIM:606835 Digital Arthropathy-Brachydactyly [informatics.jax.org]

An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 2006;86(2):463.e1–463.e5. [doi: 10.1016/j.fertnstert.2005.12.062] 7. de la Chapelle A, Hästbacka J, Korhonen T, Mäenpää J. [m.apamedcentral.org]

An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 2006; 86: 463.e2-e5. 5. Kojima Y, Hayashi Y, Mizuno K, Sasaki S, Fukui Y, Koopman P, Morohashi K, Kohri K. [mjcu.or.kr]

All males with this phenotype genotype mismatch are azoospermic, due to the absence of long arm of Y chromosome containing Azoospermia Factor gene (AZF), which is responsible for normal spermatogenesis. [asean-endocrinejournal.org]

The 85% of individuals, ADPKD are caused by mutations in the gene PKD1.PKD1 gene is located on the short arm of chromosome 16 (16p13.3), the resting 15% patients are found mutations in PKD2 gene that is located on the long arm of chromosome 4 (4q21). [ndltd.ncl.edu.tw]

An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 2006 ;86: 463.e1 – 463.e5. Google Scholar ISI 187. [journals.sagepub.com]

(Limb Malformations & Skeletal Dysplasia) A case was described in 1957 by Michail, Matsoukas and Theodorou. [3] In 1963, Jack Herbert Rubinstein (1925–2006) and Hooshang Taybi (1919–2006) described a larger series of cases. [4] Typical features of the [en.wikipedia.org]

dysplasia lip granuloma Deafness vitiligo achalasia Deafness white hair contractures papillomas Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Deafness X-linked DFN3 Deafness autosomal dominant nonsyndromic sensorineural 17 Deafness [personalizedcause.com]

[…] deficiency, combined 3 Deafness, sensorineural, with imperforate anus and hypoplastic thumbs - See Townes-Brocks syndrome Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts - See Chudley-Mccullough syndrome Deafness, skeletal [herenciageneticayenfermedad.blogspot.com]

Dysmorphism, Severe Brachydactyly and Syndactyly 53 Classifications: Summaries for Dauwerse-Peters Syndrome MalaCards based summary : Dauwerse-Peters Syndrome, is also known as short stature, facial dysmorphism, severe brachydactyly, and syndactyly. [malacards.org]

Names and Terminology Other Names : Short stature, facial dysmorphism, severe brachydactyly and syndactyly ... Source: GARD (NIH) 1 ... ... [familydiagnosis.com]

The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. [ndltd.ncl.edu.tw]

The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. [ndltd.ncl.edu.tw]