Reciprocal translocation 4;11 with both adjacent-1 segregants viable within a family.
We describe a family carrying a balanced 4;11 translocation in which both adjacent-1 segregants are viable. The proband had an unbalanced karyotype: 46,XY,der(11)t(4;11)(q34.3;q23.1)mat. At 8.5 years of age he showed trigonocephaly, hypertelorism, epicanthal folds, down-slanting palpebral fissures, low-set ears, anteverted nares, down-turned carp-shaped mouth, and bilateral fifth finger clinodactyly. His maternal aunt was also dysmorphic with high-arched palate, short philtrum and mild developmental delay. Her karyotype was 46,XX,der(4)t(4;11)(q34.3;q23.1)pat. Other relatives who likely carried a chromosomally unbalanced segregant were identified from photographs and medical records. We compare the clinical findings in our family with descriptions of other similar karyotypic abnormalities from previous case reports.
Rogers
J C
JC
Section of Genetics, The Children's Mercy Hospital, University of Missouri School of Medicine, Kansas City 64108, USA.
Harris
D J
DJ
Pasztor
L M
LM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010375:Pedigree; D014178:Translocation, Genetic