Edelhoff S, Maier B, Trautmann U, Pfeiffer R A
Institut für Humangenetik, Erlangen, Germany.
Ann Genet. 1991;34(2):85-9.
A dysmorphic newborn showed an interstitial deletion of the long arm of a chromosome 16 due to a balanced paternal insertional translocation 46,XY,ins(14;16)(q23;q13q22). The insertion was confirmed by chromosomal in situ suppression (CISS-) hybridization. Clinical features considered to be typical for a 16q- phenotype are demonstrated in this patient. Similar observations described in the literature are compared and discussed with reference to the phenocritical region.
一名畸形新生儿因父亲的平衡插入易位46,XY,ins(14;16)(q23;q13q22)导致16号染色体长臂间质性缺失。通过染色体原位抑制（CISS-）杂交证实了该插入。该患者表现出被认为是典型16q-表型的临床特征。参考表型关键区域，对文献中描述的类似观察结果进行了比较和讨论。
