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The presence of a specific chromosomalabnormality may augment diagnosis and therapeutic stratification.
2
This chromosomalabnormality is difficult to identify from G-banding alone.
3
This could explain the low prevalence of this chromosomalabnormality observed in the present study.
4
This rare chromosomalabnormality was associated with severe feeding problems in the first years of life.
5
All fetuses should have ultrasonography to exclude other anomalies, and karyotype analysis to exclude chromosomalabnormality.
6
As I settled into an overstuffed armchair, I wondered if the woman had a chromosomalabnormality.
7
The following step would be a chromosomalabnormality (e.g.
8
Trisomy 17 mosaicism in liveborns is an extremely rare chromosomalabnormality, with only three cases reported in the literature.
9
Ocular coloboma can occur as an autosomal dominant condition or as part of a known syndrome or chromosomalabnormality.
10
Several case reports of a similar chromosomalabnormality have been reported for thymic carcinoma in young patients with poor outcome.
11
For the Yale study, State started with a patient with autism who had a rare chromosomalabnormality that disrupted CNTNAP2.
12
The Institute of Obstetricians and Gynaecologists has said chromosomalabnormality can rarely be diagnosed by the twelfth week of pregnancy.
13
They include the availability of prenatal ultrasound scans and the effect new regulations may have on pregnancies where there is a foetal chromosomalabnormality.
14
Partial or complete duplication of 5p is a rare chromosomalabnormality in which genotype-phenotype correlation studies are hampered by other commonly associated chromosomal abnormalities.
15
This report illustrates that in case of two sibs with an identical structural chromosomalabnormality the possibility of parental chromosomal mosaicism must be thoroughly investigated.
16
A clonal chromosomalabnormality was observed in marrow or blood cells from 61 of the 63 patients (97%).