Genetic and developmental anomalies

• sexual dimorphism
  7 March 2010

  See also
  sex differentiation
  References
  Genetic and molecular insights into the development and evolution of sexual dimorphism. Williams TM, Carroll SB. Nat Rev Genet. 2009 Nov;10(11):797-804. PMID: #19834484#
  Federman DD. The biology of human sex differences. N Engl J Med. 2006 Apr 6;354(14):1507-14. PMID: #16598047#
  Rinn JL, Snyder M. Sexual dimorphism in mammalian gene expression. Trends Genet. 2005 May;21(5):298-305. PMID: (...)

• recombination hot spots
  7 March 2010

  recombination hot spot

• Wilms tumor-neuroblastoma familial association
  27 January 2010

  Wilms tumor and neuroblastoma are childhood tumors of the kidney and undifferentiated neural crest cells, respectively. Both disorders are primarily sporadic, but familial Wilms tumor pedigrees and familial neuroblastoma pedigrees are each well recognized and account for approximately 1-3% of each tumor type.
  Families with both Wilms tumor and neuroblastoma represent a previously unrecognized familial cancer syndrome in which the underlying predisposition gene(s) remain to be determined. (...)

• Gitelman syndrome
  14 December 2009

  the Gitelman variant of Bartter syndrome is caused by mutation in the thiazide-sensitive Na-Cl cotransporter (SLC12A3; MIM.600968).
  Synopsis
  Autosomal recessive
  Onset in childhood (later than in antenatal Bartter syndrome MIM.241200)
  Polyuria
  Renal potassium wasting
  Renal magnesium wasting
  Chondrocalcinosis
  Generalized muscle weakness
  Muscle cramps
  Tetany
  Seizures
  Paresthesias
  Paralysis, episodic, after strenuous exercise
  Hypokalemic alkalosis
  Polydipsia (...)

• MMR-associated Turcot syndrome
  5 June 2009

  MSI-associated Turcot syndrome

• APC-associated Turcot syndrome
  5 June 2009

  See also
  Turcot syndrome MSI-associated Turcot syndrome

• Cousin syndrome
  4 May 2009

  Cousin disease

• Canavan disease
  14 April 2009

  Canavan disease is characterized by megalocephaly, severe mental deficits, blindness, and signs and symptoms of white matter injury beginning in early infancy and relentlessly progressing to death by 18 months of age.
  Autopsy studies have shown spongy degeneration of the white matter, particularly affecting subcortical U fibers and Alzheimer type II astrocytes in the gray matter.
  Aspartoacylase activity is deficient in affected individuals, and point mutations and deletions in the gene (...)

• ALK+ histiocytosis
  6 November 2008

  See also
  histiocytoses
  ALK immunoreactivity
  Clinical synopsis
  pallor
  massive hepatosplenomegaly
  anemia
  thrombocytopenia
  Microscopical synopsis
  Liver: infiltration of the sinusoids by large histiocytes with markedly folded nuclei, fine chromatin, small nucleoli, and voluminous lightly eosinophilic cytoplasm that sometimes was vacuolated or contained phagocytosed blood cells. (#18660380#)
  Cutaneous infiltrates morphologically resembling juvenile xanthogranuloma. (...)

• nail-patella-like renal disease
  3 November 2008

  See also
  nail-patella syndrome
  References
  Salcedo, J. R. : An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred. Am. J. Med. Genet. 19: 579-584, 1984. PubMed ID : #6507504#

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