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De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature

Clinical genetics, 2002-03, Vol.61 (3), p.202-206

2002

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Ring chromosome 8 syndrome: Further characterization

American journal of medical genetics, 2000-01, Vol.90 (2), p.162-164

2000

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Tetrasomy 9p: an emerging syndrome

Clinical genetics, 1991-01, Vol.39 (1), p.60-64

1991

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Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p)

Archives of ophthalmology (1960), 1999-12, Vol.117 (12), p.1648

1999

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Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement

Journal of medical genetics, 1984-10, Vol.21 (5), p.391-395

1984

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Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly

American journal of medical genetics, 1995-01, Vol.55 (2), p.165-170

1995

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Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q

Clinical genetics, 1997-02, Vol.51 (2), p.115-117

1997

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De novo partial duplications 1p: Report of two new cases and review

American journal of medical genetics, 1999-01, Vol.82 (3), p.261-264

1999

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Mild phenotypic effects of a de novo deletion Xpter→Xp22.3 and duplication 3pter→3p23

American journal of medical genetics, 1995-03, Vol.56 (1), p.16-21

1995

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Sudden infant death syndrome: normal QT interval on ECGs of relatives

Pediatrics (Evanston), 1977-07, Vol.60 (1), p.51-54

1977

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Euchromatic 9q+ heteromorphism in a family

American journal of medical genetics, 1990-09, Vol.37 (1), p.155-156

1990

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Trisomy 22: No longer an enigma

American journal of medical genetics, 1989-12, Vol.34 (4), p.541-544

1989

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Euchromatic 16p + heteromorphism: First report in North America

American journal of medical genetics, 1990-12, Vol.37 (4), p.548-550

1990

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Hypomelanosis of Ito with triphalangeal thumbs

Journal of medical genetics, 1980-04, Vol.17 (2), p.151-152

1980

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Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring

Annales de génétique, 1990, Vol.33 (3), p.173

1990

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Abnormalities resulting from a familial pericentric inversion of chromosome 18

Clinical genetics, 1978-08, Vol.14 (2), p.98-104

1978

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45,X/46,XY Mosaicism: Clinical management and Counseling Issues

Genetics in medicine, 1999-01, Vol.1 (2), p.57

1999

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Tetraploidy: A report of three live-born infants

American journal of medical genetics, 1984-09, Vol.19 (1), p.29-37

1984

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Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases

American journal of medical genetics, 1984-02, Vol.17 (2), p.437-450

1984

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Chromosome abnormalities due to maternal translocations not detected with routine amniocentesis

Genetics in medicine, 1999-01, Vol.1 (2), p.46

1999

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Partial deletion 10q

Human genetics, 1978-01, Vol.42 (3), p.339-343

1978

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Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy lpter→lp36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q

Clinical genetics, 1997, Vol.51 (2), p.115-117

1997

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Familial translocation leading to partial trisomy 13: Report of three cases

Indian journal of pediatrics, 1984-07, Vol.51 (4), p.481-487

1984

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Familial translocation leading to partial trisomy 13: report of three cases

Indian journal of pediatrics, 1984-07, Vol.51 (411), p.481-487

1984

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Euchromatic 9q + heteromorphism in a family

American journal of medical genetics, 1990, Vol.37 (1), p.155-156

1990

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De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature

Ring chromosome 8 syndrome: Further characterization

Tetrasomy 9p: an emerging syndrome

Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p)

Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement

Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly

Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q

De novo partial duplications 1p: Report of two new cases and review

Mild phenotypic effects of a de novo deletion Xpter→Xp22.3 and duplication 3pter→3p23

Sudden infant death syndrome: normal QT interval on ECGs of relatives

Euchromatic 9q+ heteromorphism in a family

Trisomy 22: No longer an enigma

Euchromatic 16p + heteromorphism: First report in North America

Hypomelanosis of Ito with triphalangeal thumbs

Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring

Abnormalities resulting from a familial pericentric inversion of chromosome 18

45,X/46,XY Mosaicism: Clinical management and Counseling Issues

Tetraploidy: A report of three live-born infants

Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases

Chromosome abnormalities due to maternal translocations not detected with routine amniocentesis

Partial deletion 10q

Prenatal diagnosis of a de novo trisomy 6q22.2→6qter and monosomy lpter→lp36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q

Familial translocation leading to partial trisomy 13: Report of three cases

Familial translocation leading to partial trisomy 13: report of three cases

Euchromatic 9q + heteromorphism in a family

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