A NEWBORN WITH PARTIAL PURE TRISOMY OF CHROMOSOME 7q INHERITED FROM PATERNAL BALANCED TRANSLOCATION WITH CONGENITAL ANOMALIES. A MINI REVIEW

BREZIGAR A.; DELLA VEDOVA MARIA CECILIA; CARDETTI M.; GUILLAMONDEGUI M.J.; MARSÁ S.M.; DRUT M; SIEWERT, SUSANA E.

Indian Journal of Medical Research and Pharmaceutical Science

Indian Journal of Medical Research and Pharmaceutical Science

Lugar: Madhya Pradesh; Año: 2018 vol. 5 p. 82 - 91

2349-5340

AbstractWe report on a familial translocation t(3;7)(3q29::7q22) leading to pure trisomy 7q227qter in a 21-days-old boy: 46,XY,der(3;7)(3pter 3q29::7q22 7pter). Byconventional citogenetic techniques including fluorescence in situ hybridization(FISH) analysis, the patient was found to have inherited a derivative chromosome 3from his father: 46,XY,t(3;7)(3pter 3q29::7q22 7qter;7pter 7q22). As aconsequence, pure duplications of chromosome 7q have been classified in 4 groupson the basis of the involved region. The present case is included in group 2 whichinvolves large duplications spanning from proximal bands to telomere duplication. Inthe literature, only one case with a pure duplication of the same region has beendescribed. Despite this, the phenotype is different. Moreover, our patient shares somephenotypic features, such as wide fontanelle, retrognathia, epicathal fold,hypertelorism, pulmonary hypoventilation and early postnatal death. However, theabsence of physical characterization in most of the reported cases could justify thelacking phenotype-genotype correlation in patients with partial 7q duplication.Further studies using recent molecular approaches such as array-CGH might permit amore clinically useful grouping of 7q duplications.