PARTIAL 3Q DUPLICATION SYNDROME AND ASSIGNMENT OF D3S5 TO 3Q25-3Q28

AJ VANESSEN*, K KOK, Anke van den Berg, B DEJONG, F STELLINK, AF BOS, H SCHEFFER, CHCM BUYS

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

28 Citaten (Scopus)

Samenvatting

We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.

Originele taal-2English
Pagina's (van-tot)151-154
Aantal pagina's4
TijdschriftHUMAN GENETICS
Volume87
Nummer van het tijdschrift2
StatusPublished - jun-1991

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