Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm

Luke J. Boyd, Joseph S. Livingston, Michael G. Brown, Helen J. Lawce, Joseph Gilhooly, Robert S. Wildin, Leesa M. Linck, R. Ellen Magenis, De Ann M Pillers

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Meiotic recombination occurs between homologous euchromatic regions of human chromosomes in early meiosis. However, such exchanges have been thought not to occur in the stalk regions of acrocentric chromosomes. We describe a child whose chromosome analysis suggests that crossovers do occur in homologous stalk regions. The proband, initially seen as a term female infant, was born to a 28-year-old mother. Dysmorphic features included wide metopic sutures, low anterior hairline, hypertelorism, external ear malformations, and cleft lip and palate. Blood chromosomes of the proband and parents were studied by G-banding, Q-banding, R-banding, and silver staining. The infant karyotype showed a submetacentric chromosome 22; that of the mother showed a pericentric inversion of chromosome 22. Chromosomes of the father were normal. In the infant, the abnormal chromosome 22 long arm appeared normal, but with additional long arm material attached to the distal short arm. In the mother, the distal long arm of the abnormal chromosome 22 was translocated to the distal short arm. The abnormal chromosome stalk in the child was intermediate in size to the stalk size of the abnormal and normal chromosomes 22 in the mother. Fluorescent in situ hybridization (FISH) analysis using chromosome 22 paint and ARSA gene probe confirmed that the duplicated material in the proband was of chromosome 22 origin; the karyotype interpretation is: 46,XX,rec(22)-dup(22q)inv(22)(p13q13.1) mat. This abnormal karyotype is most likely due to a crossover event within the inversion loop during meiosis. The stalk length discrepancy suggests that the crossover site occurred in the stalk region.

Original languageEnglish (US)
Pages (from-to)355-360
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume138 A
Issue number4
DOIs
StatePublished - Nov 1 2005

Fingerprint

Chromosome Duplication
Chromosomes, Human, Pair 22
Arm
Chromosomes
Mothers
Meiosis
Karyotype
Hypertelorism
Abnormal Karyotype
External Ear
Silver Staining
Paint
Cleft Lip
Cleft Palate
Human Chromosomes
Fluorescence In Situ Hybridization
Fathers
Sutures
Genetic Recombination
Parents

Keywords

  • Chromosome 22q
  • Chromosome stalk
  • Duplication
  • Nucleolar organizing region (NOR)
  • Partial trisomy
  • Pericentric inversion

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm. / Boyd, Luke J.; Livingston, Joseph S.; Brown, Michael G.; Lawce, Helen J.; Gilhooly, Joseph; Wildin, Robert S.; Linck, Leesa M.; Magenis, R. Ellen; Pillers, De Ann M.

In: American Journal of Medical Genetics, Vol. 138 A, No. 4, 01.11.2005, p. 355-360.

Research output: Contribution to journalArticle

Boyd, LJ, Livingston, JS, Brown, MG, Lawce, HJ, Gilhooly, J, Wildin, RS, Linck, LM, Magenis, RE & Pillers, DAM 2005, 'Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm', American Journal of Medical Genetics, vol. 138 A, no. 4, pp. 355-360. https://doi.org/10.1002/ajmg.a.30895
Boyd, Luke J. ; Livingston, Joseph S. ; Brown, Michael G. ; Lawce, Helen J. ; Gilhooly, Joseph ; Wildin, Robert S. ; Linck, Leesa M. ; Magenis, R. Ellen ; Pillers, De Ann M. / Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm. In: American Journal of Medical Genetics. 2005 ; Vol. 138 A, No. 4. pp. 355-360.
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abstract = "Meiotic recombination occurs between homologous euchromatic regions of human chromosomes in early meiosis. However, such exchanges have been thought not to occur in the stalk regions of acrocentric chromosomes. We describe a child whose chromosome analysis suggests that crossovers do occur in homologous stalk regions. The proband, initially seen as a term female infant, was born to a 28-year-old mother. Dysmorphic features included wide metopic sutures, low anterior hairline, hypertelorism, external ear malformations, and cleft lip and palate. Blood chromosomes of the proband and parents were studied by G-banding, Q-banding, R-banding, and silver staining. The infant karyotype showed a submetacentric chromosome 22; that of the mother showed a pericentric inversion of chromosome 22. Chromosomes of the father were normal. In the infant, the abnormal chromosome 22 long arm appeared normal, but with additional long arm material attached to the distal short arm. In the mother, the distal long arm of the abnormal chromosome 22 was translocated to the distal short arm. The abnormal chromosome stalk in the child was intermediate in size to the stalk size of the abnormal and normal chromosomes 22 in the mother. Fluorescent in situ hybridization (FISH) analysis using chromosome 22 paint and ARSA gene probe confirmed that the duplicated material in the proband was of chromosome 22 origin; the karyotype interpretation is: 46,XX,rec(22)-dup(22q)inv(22)(p13q13.1) mat. This abnormal karyotype is most likely due to a crossover event within the inversion loop during meiosis. The stalk length discrepancy suggests that the crossover site occurred in the stalk region.",
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AU - Boyd, Luke J.

AU - Livingston, Joseph S.

AU - Brown, Michael G.

AU - Lawce, Helen J.

AU - Gilhooly, Joseph

AU - Wildin, Robert S.

AU - Linck, Leesa M.

AU - Magenis, R. Ellen

AU - Pillers, De Ann M

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N2 - Meiotic recombination occurs between homologous euchromatic regions of human chromosomes in early meiosis. However, such exchanges have been thought not to occur in the stalk regions of acrocentric chromosomes. We describe a child whose chromosome analysis suggests that crossovers do occur in homologous stalk regions. The proband, initially seen as a term female infant, was born to a 28-year-old mother. Dysmorphic features included wide metopic sutures, low anterior hairline, hypertelorism, external ear malformations, and cleft lip and palate. Blood chromosomes of the proband and parents were studied by G-banding, Q-banding, R-banding, and silver staining. The infant karyotype showed a submetacentric chromosome 22; that of the mother showed a pericentric inversion of chromosome 22. Chromosomes of the father were normal. In the infant, the abnormal chromosome 22 long arm appeared normal, but with additional long arm material attached to the distal short arm. In the mother, the distal long arm of the abnormal chromosome 22 was translocated to the distal short arm. The abnormal chromosome stalk in the child was intermediate in size to the stalk size of the abnormal and normal chromosomes 22 in the mother. Fluorescent in situ hybridization (FISH) analysis using chromosome 22 paint and ARSA gene probe confirmed that the duplicated material in the proband was of chromosome 22 origin; the karyotype interpretation is: 46,XX,rec(22)-dup(22q)inv(22)(p13q13.1) mat. This abnormal karyotype is most likely due to a crossover event within the inversion loop during meiosis. The stalk length discrepancy suggests that the crossover site occurred in the stalk region.

AB - Meiotic recombination occurs between homologous euchromatic regions of human chromosomes in early meiosis. However, such exchanges have been thought not to occur in the stalk regions of acrocentric chromosomes. We describe a child whose chromosome analysis suggests that crossovers do occur in homologous stalk regions. The proband, initially seen as a term female infant, was born to a 28-year-old mother. Dysmorphic features included wide metopic sutures, low anterior hairline, hypertelorism, external ear malformations, and cleft lip and palate. Blood chromosomes of the proband and parents were studied by G-banding, Q-banding, R-banding, and silver staining. The infant karyotype showed a submetacentric chromosome 22; that of the mother showed a pericentric inversion of chromosome 22. Chromosomes of the father were normal. In the infant, the abnormal chromosome 22 long arm appeared normal, but with additional long arm material attached to the distal short arm. In the mother, the distal long arm of the abnormal chromosome 22 was translocated to the distal short arm. The abnormal chromosome stalk in the child was intermediate in size to the stalk size of the abnormal and normal chromosomes 22 in the mother. Fluorescent in situ hybridization (FISH) analysis using chromosome 22 paint and ARSA gene probe confirmed that the duplicated material in the proband was of chromosome 22 origin; the karyotype interpretation is: 46,XX,rec(22)-dup(22q)inv(22)(p13q13.1) mat. This abnormal karyotype is most likely due to a crossover event within the inversion loop during meiosis. The stalk length discrepancy suggests that the crossover site occurred in the stalk region.

KW - Chromosome 22q

KW - Chromosome stalk

KW - Duplication

KW - Nucleolar organizing region (NOR)

KW - Partial trisomy

KW - Pericentric inversion

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