Serena-Lungarotti M, Calabro A, Mariotti G, Mastroiacovo P P, Provenzano S, Dallapiccola B
Hum Genet. 1979;52(3):269-74. doi: 10.1007/BF00278676.
A partial monosomy 13 by interstitial deletion was found in the complement of two patients with mental retardation and mild dysmorphic features. Neither of the patients had a retinoblastoma, even though the second patient had a 13q14 deletion. The karyotype-phenotype correlation in the two patients suggests the need to reconsider the clinical profile of these rare chromosomal syndromes in a large series of subjects.
在两名患有智力障碍和轻度畸形特征的患者的染色体组中发现了因中间缺失导致的13号染色体部分单体性。尽管第二名患者存在13q14缺失，但两名患者均未患视网膜母细胞瘤。这两名患者的核型-表型相关性表明，有必要在大量受试者中重新考虑这些罕见染色体综合征的临床特征。
