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Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18

โœ Scribed by K. Prabhakara; Herman E. Wyandt; Xin L. Huang; K.Suma Prasad; A.Radha Ramadevi


Book ID
113455313
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
203 KB
Volume
47
Category
Article
ISSN
0003-3995

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Chromosome 18q paracentric inversion in
โœ Keppler-Noreuil, Kim M.; Carroll, Andrew J.; Finley, Sara C.; Descartes, Maria; ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 32 KB ๐Ÿ‘ 2 views

We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv( )(q21.1q23). The child had findings in common with those seen in 18q-syndrome including: microcephaly, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on