منابع مشابه
Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent gro...
متن کاملA third case of de novo partial trisomy 4p.
Interestingly, the previously reported patient with a different but overlapping deletion of chromosome 12 long arm (q13.3-q21.1) and the subject of this report have only a few features in common (table). The deletion in each includes the portion 12q13.3 to q21. 1. It is unclear whether the small difference in the portion of 12q deleted accounts for the fact that they do not resemble each other ...
متن کاملFamilial 4;18 chromosome translocation resulting in trisomy 4p and monosomy 18p: affected individuals with discordant phenotype.
Balanced chromosome translocations in either parent increase the risk of recurrent miscarriage, unbalanced chromosome rearrangements, congenital malformations, and mental retardation in liveborn offspring. Chromosome aberrations account for at least 50% of fetal losses prior to 15 weeks’ estimated gestation (EGA). Of these, 60% occur secondary to autosomal trisomies (Gardner and Sutherland, 200...
متن کاملDe novo case of a partial trisomy 4p and a partial monosomy 8p.
The extent of clinical expression in cases of segmental aneuploidy often varies depending on the size of the chromosomal region involved. Here we present clinical and cytogenetic findings in a 5-month old boy with a duplication of a chromosomal segment 4p16.1-->4pter and a deletion of a chromosomal segment 8p23.1-->8pter. His karyotype was determined by applying classical GTG banding and FISH m...
متن کاملFamilial balanced translocation 4p+/17q- as a suggested cause of primary trisomy-21 Down's syndrome.
A case is presented in which a 4p+/17q- familial balanced reciprocal translocation in the mother produced a son with primary trisomy-21, as well as the structural chromosomal anomaly. A number of similar situations have been reported, suggesting that the two events are related. In practice, this (as well as other direct risks) should be taken into account when counseling those families in which...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1994
ISSN: 0007-1161
DOI: 10.1136/bjo.78.5.415