Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome
✍ Scribed by Herens, Christian; Jamar, Mauricette; Alvarez-Gonzalez, Maria-Luz; Lesenfants, Sylviane; Lombet, Jacques; Bonnivert, Jacqueline; Koulischer, Lucien; Verloes, Alain
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 24 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major manifestations included intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, hypertelorism, beaked nose, and extremely severe neurologic impairment, with holoprosencephaly in one instance. After the observation of a further affected child born of one unaffected sister, in situ hybridization analysis and chromosome painting techniques demonstrated a subtle t(2;4)(q37.1; p16.2) translocation in the mother, suggesting a combination of 2q/4p trisomy/ monosomy in all of the affected children of the family. Many private sporadic or recurrent MCA/MR syndromes maybe due to similar symmetric translocations, undetectable by conventional banding techniques.