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Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36

✍ Scribed by Hatziioannou, Androniki G. ;Krauss, Celeste M. ;Lewis, Michael B. ;Halazonetis, Thanos D.

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
604 KB
Volume
40
Category
Article
ISSN
0148-7299

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✦ Synopsis

A familial balanced t(7;9) (q36;q34) was reported recently. Analysis of the craniofacial features of 3 of the sibs showed signs of holoprosencephaly. Two of the sibs have an unbalanced derivative chromosome leading to del(7) (q36) and dup(9) (q34), while the other has a cytogenetically balanced translocation. These findings, together with several reports associating holoprosencephaly with terminal 7q deletions, indicate that a putative locus for holoprosencephaly resides at or near 7q36. It should now be feasible to clone this locus. KEY WORDS: holoprosencephaly, median cleft lip, balanced translocation, dup(9) (q3), de1(7)(q3)

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Sub-band deletion of 7q36.3 in a patient
Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: Association with holoprosencephaly
✍ Sawyer, Jeffrey R.; Lukacs, Janet L.; Hassed, Susan J.; Arnold, Georgianne L.; M πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 440 KB πŸ‘ 3 views

W e report on a patient with ring chromosome 7 analyzed by both high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly (HPE).