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An inherited small extra chromosome: a mother with 46,XX,t(17;22)(pl;ql) and a son with 47,XY,+der(22)mat.
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Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.
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引用本文的文献
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Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study.
Medicine (Baltimore). 2018 Sep;97(38):e12437. doi: 10.1097/MD.0000000000012437.
2
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
Eur J Pediatr. 1998 May;157(5):355-62. doi: 10.1007/s004310050830.
3
CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
Neuropediatrics. 1997 Jun;28(3):175-8. doi: 10.1055/s-2007-973696.
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Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
J Med Genet. 1997 Jul;34(7):535-40. doi: 10.1136/jmg.34.7.535.
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X linked hydrocephalus and MASA syndrome.
J Med Genet. 1996 Jan;33(1):59-65. doi: 10.1136/jmg.33.1.59.
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Aphasia, deafness, or mental retardation.
J Med Genet. 1993 Mar;30(3):262. doi: 10.1136/jmg.30.3.262.
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X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.
J Med Genet. 1993 May;30(5):381-4. doi: 10.1136/jmg.30.5.381.
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New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.
Am J Hum Genet. 1995 Jun;56(6):1304-14.
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Adducted thumb syndrome. Report of a new case and a diagnostic approach.
Eur J Pediatr. 1983 Dec;141(2):122-6. doi: 10.1007/BF00496805.
10
MASA syndrome: further clinical delineation and chromosomal localisation.
Hum Genet. 1989 Jul;82(4):367-70. doi: 10.1007/BF00273999.
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