Microdeletion syndromes

• 3p25-pter deletion syndrome
  22 March 2012

  Distal deletion of chromosome 3p25-pter (3p- syndrome)
  Distal deletion of chromosome 3p25-pter (3p- syndrome) produces a distinct clinical syndrome characterized by low birth weight, mental retardation, telecanthus, ptosis, and micrognathia.
  Congenital heart disease (CHD), typically atrioventricular septal defect (AVSD) occurs in about a third of patients.
  A candidate critical region for mental retardation was mapped to an approximately 1 Mb interval containing SRGAP3 but other 3p (...)

• 19q13.11 microdeletion syndrome
  1 March 2012

  Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan-Diamond syndrome due to haploinsufficiency of the RPS19 gene.
  Such a paucity of patients might be due to the difficulty in detecting a small rearrangement on this chromosome that lacks a distinct banding pattern.
  Array comparative genomic hybridisation (CGH) has become a powerful tool for the detection of microdeletions and microduplications at high resolution in (...)

• 16q24.1 microdeletion
  22 November 2011

  Synopsis
  persistent pulmonary hypertension of the newborn
  multiple congenital malformations
  partial atrioventricular canal malformation
  bilateral dilation of the renal pelvocaliceal system with bilateral ureteral stenosis
  annular pancreas
  alveolar capillary dysplasia with misalignment of pulmonary veins
  References
  16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn. (...)

• 2q23.1 microdeletion
  14 November 2011

  2q23.1 microdeletion syndrome

• distal 22q11.2 deletion
  19 January 2011

  References
  Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP. Am J Med Genet A. 2009 Dec;149A(12):2855-9. PMID: #19938088#

• 15q25.2 deletion syndrome
  30 October 2010

  Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects. A high index of suspicion should exist for the development of cognitive defects, anaemia and DBA-associated malignancies in these individuals.
  Synopsis
  congenital diaphragmatic hernia (CDH)
  cognitive deficits
  cryptorchidism
  short stature
  Diamond-Blackfan anaemia (DBA)
  15q25.2 target genes
  CPEB1,
  AP3B2
  HOMER2
  HDGFRP3
  References (...)

• terminal 15q26.2->qter Deletion
  30 October 2010

  Target gene
  IGF1R Mutations in the IGF1R gene result in intrauterine growth retardation and postnatal growth failure. The heterozygous mutation of IGF1R reduced IGF1R expression and represents haploinsufficiency of the IGF1R gene. Mutation in the IGF1R gene leads to abnormalities in the function of IGF1R and also retards intrauterine and subsequent growth in humans.
  References
  Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R (...)

• del(13)(q32q33.2) deletion syndrome
  30 October 2010

  Synopsis
  fish mouth
  choanal atresia
  severe mental
  motor retardation
  Cytogenetics
  del(13)(q32q33.2)
  Nota bene: 13q deletion syndrome is characterized by mental and motor retardation, craniofacial dysmorphic facial appearance and various congenital malformations.
  References
  Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth. Balci S, Yuksel Konuk B, Atik F, Oguz AK, Ergun MA, Baltaci V, Kosyakova N, (...)

• del(21)(q22) syndrome
  30 October 2010

  21q22 deletion syndrome

• 7q terminal deletion syndrome
  11 July 2010

  Clinical synopsis
  esophageal stenosis
  growth retardation
  microcephaly
  coloboma of papilla
  ptosis
  hearing loss
  urinary tract anomalies
  partial agenesis of sacrum
  hypotonia
  neuropsychomotor delay
  odontoid hypoplasia
  esophageal stenosis (#20601258#)
  Anomalies
  7q terminal deletion del(7)(q35—>qter) (#20601258#)
  References
  Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin (...)

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