01p221

1p22.1

Publication Details

  • Asamoah A, Decker A B, Wiktor A, Van Dyke D L.: Child with de novo t(1;6)(p22.1p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay. AJMG DOI=10.1002/ajmg.10929;118A:82-85, 2003. [PubMed: 12605448]
    Griggs B L, Ladd S, Decker A, DuPont B R, Asamoah A, Srivastava A K.: Identification of ectodysplasin - a receptor gene deletion at 2q12.2 and a potential autosomal MR locus. Europ. J. Hum. Genet. 17: 30-36 2009, [PMC free article: PMC2605173] [PubMed: 18854857]
    Patient: CMS8770.
    46,XX,t(1;6)(p22.1;p22.2)de novo.del(2)(q12.2),del(6)(22.3).
    The patient was 6.5 years old.
    Aberration: Reciprocal translocation
    Index Terms: Ectodermal dysplasia with hypodontia, ectodysplasin

  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(1;20)(p221;p12).
    Aberration: Reciprocal translocation
    Negative band

  • Cousineau A J, Higgins J V, Hackel E, Waterman D F, Toriello H, Carlile P A, Cook P J L: Cytogenetic recognition of chromosomal duplication (dup(1)(p31.4 to p22.1)) and the detection of three different alleles at the PGM1 locus. Ann. Hum. Genet. 45:337-340, 1981. [PubMed: 6211126]
    Patient, 190279, was ascertained because of multiple congenital anomalies and mental and growth retardation.
    46,XY,ins dup(1)(pter -> p32.3::p31.2 -> p22.1::p32.3 -> qter).
    Aberration: Duplication
    Negative band

  • Fryns J P, Kleczkowska A, Van den Berghe H: Paracentric inversions in man. Hum. Genet. 73:205-213, 1986. [PubMed: 3733076]
    Family No. 1.
    46,XX,inv(1)(p221p353)fam.
    Aberration: Inversion paracentric
    Negative band

  • Lai M M R, Robards M F, Berry A C, Fear C N, Hart C: Two cases of interstitial deletion 1p. J. Med. Genet. 28:128-130, 1991. [PMC free article: PMC1016783] [PubMed: 2002484]
    Case 1.
    46,XY,del(1)(pter -> p31.2::p22.1 -> qter)de novo.
    Patient was 10 years old and mentally retarded with some dysmorphic features.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
    Negative band

  • Lopreiato J O, Wulfsberg E A: A complex chromosome rearrangement in a boy with autism. J. Develop. Behav. Pediat. 13:281-283, 1992. [PubMed: 1506468]
    46,XY,t(1;7;21)(1qter->1p22.1::21q22.3->21qter;7pter->7q11.23::7q36.1->7qter;21pter->21q22.3::7q36.1->7q11.23::1p22.1->1pter).
    The patient was 6 1/2 years old with autism. Parental karyotypes were normal.
    Aberration: Complex translocation
    Index Terms: Autis(m)(tic)
    Negative band

  • Petersen M B, Warburg M: Interstitial deletion 1p in a 30 year old woman. J. Med. Genet. 24:229-231, 1987. [PMC free article: PMC1050002] [PubMed: 2953897]
    Patient had several malformations including short stature, round face, large-half open mouth, small ears, micrognathia, severe psychomotor retardation, short neck, and clinodactyly of the fifth finger.
    46,XX,del(1)(p22.1p31.2).&46,XX,del(1)(pter -> p31.2::p22.1 -> qter).
    Aberration: Interstitial deletion
    Index Terms: Clinodactyly,Ears ... small,Face ... broad, round flat,Micrognathia,Mouth ... large,Mouth ... open,Neck ... short,Stature ... short (low)
    Negative band

  • Van Hummelen P, Manchester D, Lowe X, Wyrobek A J.: Meiotic segregation, recombination, and gamete aneuploidy assessed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three- and four-probe multicolor FISH in sperm. AJHG 61:651-659, 1997. [PMC free article: PMC1715953] [PubMed: 9326331]
    46,XY,t(1;10)(p22.1;q22.3)
    No evidence of interchromosomal effect on aneuploidy was seen. However, a significant higher frequency of diploid sperm was detected in the translocation carrier.
    Aberration: Reciprocal translocation
    No band

  • Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]
    Lab ID DD8701728 and DD9406061:
    46,XX,t(1;9)(p22.1;p24.1)de novo.,46,XX,t(1;12)(p22.1;q22)mat.
    Cases ascertained during prenatal diagnosis.
    Lab ID DD9608884:
    46,XX,t(1;18)(p22.1;q21.3)fam.
    Ascertainment listed as miscellaneous.
    Aberration: Reciprocal translocation