A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 833-839

  Pallister, Philip D ^a   Pallister, Adam B ^b   South, Sarah ^c   Toydemir, Reha ^c   Johnson, John P ^d   Beischel, Linda ^d   Opitz, John M ^c,e  

^a Practice of Medicine and Clinical Genetics (Retired)   (United States)

^b Ranching at the Jaybird Ranch   (United States)

^c ARUP LABORATORIES   (United States)

^d Shodair Children's Hospital   (United States)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Array CGH; Duplication deficiency syndrome; HRB; MCA MR syndrome

Indexed keywords

ADSSL1 GENE; ADULT; AHNAK2 GENE; AKT1 GENE; AMN GENE; ANKRD9 GENE; ARTICLE; BAG5 GENE; BCL11B GENE; BEGAIN GENE; BRF1 GENE; BTBD6 GENE; C14ORF131 GENE; C14ORF151 GENE; C14ORF153 GENE; C14ORF172 GENE; C14ORF180 GENE; C14ORF2 GENE; C14ORF68 GENE; C14ORF73 GENE; C14ORF79 GENE; C14ORF80 GENE; CASE REPORT; CCNK GENE; CDC42BPB GENE; CDCA4 GENE; CHROMOSOME 14Q; CHROMOSOME DELETION 13; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 13; CINP GENE; CKB GENE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DISORDER; CRIP1 GENE; CRIP2 GENE; CYP46A1 GENE; CYTOGENETICS; DEGS2 GENE; DIO3 GENE; DLK1 GENE; DYNC1H1 GENE; EIF5 GENE; EML1 GENE; EVL GENE; GENE; GPR132 GENE; HHIPL1 GENE; HSP90AA1 GENE; HUMAN; HUMAN CELL; HYPERCALCEMIA; INF2 GENE; INFANTILE HYPERCALCEMIA; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; JAG2 GENE; KIAA0284 GENE; KIAA0329 GENE; KIF26A GENE; KLC1 GENE; LOC374569 GENE; MALE; MARK3 GENE; MTA1 GENE; NUDT14 GENE; PACS2 GENE; PLD4 GENE; PPP1R13B GENE; PPP2R5C GENE; PRIORITY JOURNAL; PSYCHOMETRY; RAGE GENE; RCOE1 GENE; S1VA1 GENE; SETD3 GENE; SLC25A29 GENE; TDRD9 GENE; TMEM121 GENE; TMEM179 GENE; TNFAIP2 GENE; TRAF3 GENE; WARS GENE; WDR20 GENE; WDR25 GENE; WILLIAMS BEUREN SYNDROME; XRCC3 GENE; YY1 GENE; ZFYVE21 GENE;

CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 14; HUMANS; HYPERCALCEMIA; INFANT, NEWBORN; KARYOTYPING; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 79953298376     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33876     Document Type: Article

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