Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome.
Herens C, Jamar M, Alvarez-Gonzalez ML, Lesenfants S, Lombet J, Bonnivert J, Koulischer L, Verloes A.
Herens C, et al. Among authors: verloes a.
Am J Med Genet. 1997 Dec 12;73(2):127-31. doi: 10.1002/(sici)1096-8628(19971212)73:2<127::aid-ajmg5>3.0.co;2-r.
Am J Med Genet. 1997.
PMID: 9409861
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 mani …
In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrom …