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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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  • Same entry as in 01p220 (Yan et al, 2000).

  • Same entry as in 03q230 (Stevens and Qumsiyeh, 1995).

  • Same entry as in 07p220 (Cobben et al, 1995).

  • Same entry as in 07q211 (Tzschach et al, 2007).

  • Same entry as in 07q212 (Deberardinis et al, 2003).

  • Back E, Toder R, Fuchshuber A.: De novo inverted duplication of chromosome 7(q21.3->q35): cytogenetic diagnosis confirmed by FISH analysis. Clin. Genet. 60:77-82, 2001. [PubMed: 11531975]
    46,XX,inv dup(7)(q21.3->q35)de novo.
    The child died at 2 months of age from respiratory adjustment disorder during a convulsive state.
    Aberration: Duplication
    Chromosomal Aneuploidy: 7q+
  • Same entry as in 07q2111 (Fryns et al, 1987).

  • Genuardi M, Neri G.: Reply to Dr. Rivera: Spli hand/split foot anomaly and 7q22.1. AJMG 53:90, 1994.
    Ignatius J, Knuutila S, Scherer S W, Trask B, Kere J.: Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. J. Med. Genet. 33:507-510, 1996. [PMC free article: PMC1050639] [PubMed: 8782053]
    Nunes M E, Pagon R A, Disteche C J, Evans J P.: A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly. Clin. Dysmorphol. 3:277-286, 1994. [PubMed: 7894731]
    Pfeiffer R A: Interstitial deletion of a chromosome 7 (7q11.2q22.1) in a child with splithand/splitfoot malformation. Ann. Genet. 27:45-48, 1984. [PubMed: 6609672]
    Rivera H.: Ectrodactyly and 7q22.1. AJMG 53:89, 1994. [PubMed: 7802046]
    Scherer S W, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon R A, Patton M A, Berg M A, Donlon T, Rivera H, Pfeiffer R A, Naritomi K, Hughes H, Genuardi M, Gurrieri F, Neri G, Lovrein E, Magenis E, Tsui L C, Evans J P: Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. AJHG 55:12-20, 1994.
    Nunes et al (1994) patient was 19 years old.
    46,XY,del(7)(q21.12q21.3 or q21.13q22.1).
    Patient MH 810502.
    46,XX,del(7)(pter->q11.2::q22.1->qter).,Parental karyotypes were normal.
    Patient reported by Ignatius et al:
    The patient was 54 years old, deaf, IQ of 30 and institutionalised since age of 42. All of his four limbs were affected with split hand /split foot anomaly.
    Data on seven patients are presented, some reported earlier (Sharland et al , 1991 cited under 5q112; Roberts et al, 1991 cited under 7p151).
    Patient T1:46,XX,t(7;12)(q22.1;q24.2).&Patient D2:46,XY,del(7)(q21.12->q22.1).
    Patient T1 had bilateral split hand/split foot and mild speech delay; D2 had normal hands, bilateral split foot, MR, microcephaly, coloboma, and short stature.
    The order of DNA markers is PON-D7S812-SHFD1-D7S811-ASNS. SHFD1 is mapped in the 7q21.3-q22.1 region.
    Aberration: ID,ST,CT,IP,PI
    MIM#: 183600
    Chromosomal Aneuploidy: 7q-
    Index Terms: SHFD1,Split hand/split foot
    Positive band
  • Lamberti L, Massa E R: "Paracentric inversion in a female with multiple miscarriages (7inv)(q2.13;q3.13)." Hum. Genet. 75:391, 1987. [PubMed: 3570294]
    A 33-year old woman who was phenotypically normal had a history of multiple miscarriages.
    Aberration: Inversion paracentric
    Positive band
  • Morey M A, Higgins R R: Ectro-amelia syndrome associated with an interstitial deletion of 7q. AJMG 35:95-99, 1990. [PubMed: 2301476]
    46,XY,del(7)(pter -> q21.3::q31.3 -> qter)de novo.
    Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect.
    It is suggested that there may be a locus in the vicinity of 7(q21 or 22) for limb differentiation.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: Limb differentiation,Ectro-amelia
    Positive band
  • Same entry as in 02q110 (Till et al, 1991).

  • Wieland I, Muschke P, Jakubiczka S, Volleth M, Freigang B, Wieacker P F.: Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. J. Med. Genet. 41:e54, 2004. [PMC free article: PMC1735762] [PubMed: 15121782]
    46,XY.ish del(7)(DLX5-,DLX6-,q21.3).
    The four-year-old was referred because of split hand/split foot malformation. Further examination by magnetic resonance tomography showed a malformation of the inner ear typical for Mondini dysplasia.
    Deletion is approximately 0.9-1.8 Mb. The breakpoints are located between the DNCI1 gene and marker D7S821 at the proximal border and between the DLX5 gene and marker D7S618 at the distal border.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: SHFM1,SHFM1D,Mondini dysplasia
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105939
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