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Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16
Author(s) -
Schmidt Nicole,
Dyke Don C Van,
KepplerNoreuil Kim,
Muilenburg Ann,
Patil Shivanand,
Kanis Adam B
Publication year - 2001
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2001.tb00730.x
Subject(s) - monosomy , trisomy , partial trisomy , long arm , chromosome , karyotype , genetics , medicine , pediatrics , biology , gene
A male child with multiple congenital anomalies and developmental delay is described. Cytogenetic evaluation showed that the patient was partially monosomic for the short arm of chromosome 18 and partially trisomic for the short arm of chromosome 16: a combination of chromosomal syndromes not previously described.