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Isochromosome 18q with karyotype 46, XX, i(18q). Cytogenetics and pathology

✍ Scribed by Ursula Froster-Iskenius; Wiltrud Coerdt; Helga Rehder; E. Schwinger

Book ID
119839638
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
393 KB
Volume
26
Category
Article
ISSN
0009-9163

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Holoprosencephaly in a newborn girl with
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✍ Spinner, Nancy B. ;Eunpu, Deborah L. ;Austria, Jocelyn R. ;Mamunes, Peter πŸ“‚ Article πŸ“… 1991 πŸ› John Wiley and Sons 🌐 English βš– 204 KB πŸ‘ 1 views

We report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46,XX,i(lSq) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.

i(18q) IN AMNIOTIC AND FETAL CELLS WITH
i(18q) IN AMNIOTIC AND FETAL CELLS WITH A NORMAL KARYOTYPE IN DIRECT CHORIONIC VILLUS SAMPLING: CYTOGENETICS AND PATHOLOGY
✍ A. LEVY-MOZZICONACCI; C. PIQUET; C. SCHEINER; J. ADRAI; A. POTIER; M. C. PELISSI πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 1004 KB

A case of false-negative discrepancy between results of chorionic villi (direct preparation) and those of fetal tissue with an isochromosome 18q [i( 18q)l in amniotic cells and fetal blood is reported. Fluorescence in situ hybridization (FISH) confirmed this uncommon chromosomal rearrangement. The f