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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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22q1121

22q11.21
  • Same entry as in 0Xq13.1 (Waters et al, 2001).
  • Augusseau S, Jouk S, Jalbert P, Prieur M: DiGeorge syndrome and 22q11 rearrangements. Hum. Genet. 74:206, 1986. [PubMed: 3770751]
    Budarf M L, Collins J, Gong W, Roe B, Wang Z, Bailey L C, sellinger B, Michaud D, Driscoll D A, Emanuel B S.: Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet. 10:269-278, 1995. [PubMed: 7670464]
    Glover T W.: CATCHing a break on 22. Nature Genet. 10:257-258, 1995. [PubMed: 7670460]
    A girl (ADU) with an incomplete Di George syndrome, her mother, and an aunt were carriers of the same translocation.
    46,XX,t(2;22)(14;q11.21)mat.&"46,XX,t(2;22)(14;q11.21)."
    Aberration: Reciprocal translocation
    MIM#: 188400
    Index Terms: Di George syndrome
    Negative band
  • Carey A H, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J, Nordenskjold M, Williamson R, Scambler P J: Molecular genetic study of the frequencey of monosomy 22q11 in DiGeorge syndrome. AJHG 51:964-970, 1992. [PMC free article: PMC1682857] [PubMed: 1415265]
    Sutherland H F, Wadey R, McKie J M, Taylor C, Atif U, Johnstone K A, Halford S, Kim U J, Goodship J, Baldini A, Scambler P J.: Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. AJHG 59:23-31, 1996. [PMC free article: PMC1915101] [PubMed: 8659529]
    Wilson D I, Cross I E, Goodship J A, Brown J, Scambler P J, Bain H H, Taylor J F N, Walsh K, Bankier A, Burn J, Wolstenholme J: A prospective cytogenetic study of 36 cases of DiGeorge syndrome. AJHG 51:957-963, 1992. [PMC free article: PMC1682842] [PubMed: 1415264]
    Wilson D I, Cross I E, Goodship J A, Coulthard S, Carey A H, Scambler P J, Bain H H, Hunter A S, Carter P E, Burn J: DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Brit. Heart J. 66:308-312, 1991. [PMC free article: PMC1024729] [PubMed: 1747284]
    Wilson D I, Goodship J A, Burn J, Cross I E, Scambler P J: Deletions within chromosome 22q11 in familial congenital heart disease. Lancet 340:573-575, 1992. [PubMed: 1355155]
    36 children were studied.
    46,XX or XY,del(22)(q11.21 -> q11.23).
    In 9 cases monosomy 22 resulted due to interstitial deletion.,33 of 35 DGS patients had chromosome 22q11 deletions detectable by DNA probes.
    Aberration: Interstitial deletion
    MIM#: 188400
    Chromosomal Aneuploidy: 22q-
    Index Terms: Di George syndrome
    Negative band
  • Driscoll D A, Budarf M L, Emanuel B S: A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. AJHG 50:924-933, 1992. [PMC free article: PMC1682598] [PubMed: 1349199]
    Driscoll D A, Spinner N B, Budarf M L, McDonald-McGinn D M, Zackai E H, Goldberg R B, Shprintzen R J, Saal H M, Zonana J, Jones M C, Mascarello J T, Emanuel B S: Deletions and microdeletions of 22q11.2 in Velo-Cardio-Facial syndrome. AJMG 44:261-268, 1992. [PubMed: 1360769]
    Pierpont J W, Erickson R P, Thompson F H, Yang J M.: Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome. Clin. Genet. 50:545-547, 1996. [PubMed: 9147896]
    15 patients with VCFS were studied.
    del(22)(q11.21q11.23).
    3/15 patients have the deletion.
    It is hypothesized that the cause (deletion) of DGS and VCFS is the same]
    Patients 7248, KM4987, and DGS-4.
    del(22)(q11.21q11.23).
    Characteristic features were present including heart defects, thymic apalsia or hypoplasia, hypocalcemia, and dysmorphic facies.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 22q-
    Index Terms: Di George syndrome,Velo-Cardio-Facial syndrome
    Negative band
  • Greenberg F, Elder F F B, Haffner P, Northrup H, Ledbetter D H: Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. AJHG 43:605-611, 1988. [PMC free article: PMC1715550] [PubMed: 3189331]
    28 patients were studied.
    46,XY,del(22)(q11.21q11.23).
    Other anomalies were also found, hence it is not clear whether high resolution cytogenetic analysis will be cost effective.,Also see report of Mears et al (1994) under 22q112.
    Aberration: Interstitial deletion
    MIM#: 188400
    Chromosomal Aneuploidy: 22q-
    Negative band
  • Goodship J, Cross I, Scambler P, Burn J.: Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet. 32: 746-748, 1995. [PMC free article: PMC1051680] [PubMed: 8544199]
    Hatchwell E.: Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet. 33:261, 1996. [PMC free article: PMC1051887] [PubMed: 8728708]
    46,XY,del(22)(q11.21q11.23)de novo.
    Twin 1 had MCA including tetralogy of Fallot. Twin 2 was normal.
    Cosmids CO568 and C179 were used to confirm the deletion. Twin zygosity was confirmed by using MS43alpha, G3, YNH24, and MS1 minisatellite DNA polymorphisms.
    Aberration: Interstitial deletion
    MIM#: 188400
    Chromosomal Aneuploidy: 22q-
    Index Terms: CATCH 22, DiGeorge syndrome, Twin MZ
    Negative band
  • Hoo J J, Robertson A, Fowlow S B, Lin C C, Bowen P: Inverted duplication of 22pter to q11.21 in Cat-Eye syndrome. AJMG 24:543-545, 1986. [PubMed: 3728573]
    Patient E. I., had coloboma, anal atresia and other anomalies.
    47,XY,+inv dup(22)(pter -> q11.21::q1121 -> pter).
    Aberration: Duplication
    MIM#: 115470
    Index Terms: Anus ... anal atresia,Atresia ... anal,Cat's eye syndrome,Coloboma
    Negative band
  • Lindsay E A, Shaffer L G, Carrozo R, Greenberg F, Baldini A.: De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization. AJMG 56:296-299, 1995. [PubMed: 7778594]
    46,XY,dup(22)(q11.21->q13.1)de novo.
    The patient was 14 months old with minor dysmorphic features, and had amniocentesis because of fetal hydronephrosis at 37 weeks. He was hospitalized because of apnea and failure to thrive twice.
    Double signal was seen upon the use of D22S75 probe.
    Aberration: Duplication
    Negative band
  • Mascarello J T, Bastian J F, Jones M C: Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence. AJMG 32:112-114, 1989. [PubMed: 2705472]
    46,XX,del(22)(pter -> q11.21::q11.23 -> qter).
    The features were an interrupted aortic arch, mild thymic hypoplasia, and minor craniofacial anomalies.
    Parental karyotypes were normal. Although there are other reports of the DiGeorge syndrome with a partial monosomy of 22, an interstitial deletion is an unique finding.
    Aberration: Interstitial deletion
    MIM#: 188400
    Chromosomal Aneuploidy: 22q-
    Negative band
  • McLean S D, Saal H M, Spinner N B, Emanuel B S, Driscoll D A: Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype. Am. J. Dis. Child. 147:1212-1216, 1993. [PubMed: 8237917]
    46,XX,del(22)(q11.21q11.23).,46,XY,der del(22)(q11.21q11.23)mat.
    Son had tetralogy of Fallot. Both of them had VCFS. Mother and son are discordant for the cardiovascular and palatal anomalies.
    Aberration: Interstitial deletion
    MIM#: 192430
    Chromosomal Aneuploidy: 22q-
    Index Terms: Velo-cardio-facial syndrome,Tetralogy of Fallot
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106834

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