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- [6] TRISOMY 1Q42-]QTER IN A SISTER AND BROTHER - FURTHER DELINEATION OF THE TRISOMY 1Q42-]QTER SYNDROME AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 58 (01): : 83 - 86
- [9] Inv dup del (1)(pter→q44::q44→q42:) with the classical phenotype of trisomy 1q42-qter AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 104 (02): : 127 - 130