Premium
Partial trisomy 6p from a de novo translocation (6; 18) with variable mosaicism in different tissues
Author(s) -
RudnikSchönebom Sabine,
Schubert Regine,
Majewski Frank,
Haverkamp Fritz,
Schwanitz Gesa
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02530.x
Subject(s) - chromosomal translocation , partial trisomy , monosomy , failure to thrive , short stature , biology , trisomy , genetics , breakpoint , karyotype , chromosome , endocrinology , gene
Partial trisomy 6p is regarded as a distinct phenotype with short stature, failure to thrive, facial dysmorphisms with blepharophimosis, mental retardation and other malformations. An 18‐month‐old girl with typical features of partial trisomy 6p showed a de novo unbalanced translocation resulting in partial trisomy 6p21 to pter and partial monosomy 18p11 to pter. The translocation was observed in all fibroblasts analyzed, but only in 6% of the peripheral lymphocytes.