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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Courtens W, Grossman D, Van Roy N, Messiaen L, Vamos E, Toppet V, Haumont D, Streydio C, Jauch A, Vermeesch J R, Speleman F.: Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion. Hum. Genet. 103:497-505, 1998. [PubMed: 9856497]Mother=46,XX,inv(18)(q21.1q22.3).,Twins=46,XY,rec(18)(pter->q21.1::q22.3->q21.1::q21.1->q12.1)The newborn twins had a Noonan-like phenotype.Aberration: IP,REMIM#: 163950Chromosomal Aneuploidy: 18q-;18q+Index Terms: MZ twins,Noonan phenotype
- Krasikov N, Thompson K, Sekhon G S: Monosomy 18q12.1 to 21.1: a recognizable aneuploidy syndrome? report of a patient and review of the literature. AJMG 43:531-534, 1992. [PubMed: 1376552]46,XX,del(18)(pter -> q12.1::q21.1 -> qter)de novo.Aberration: Interstitial deletionChromosomal Aneuploidy: 18q-Positive band
- Poissonnier M, Turleau C, Olivier-Martin M, Milleret-Proyart M J, Prieur M, Dubos M, Cabanis M O, Mugneret F, Blanc Ph, Noel L: Interstitial deletion of the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? a report of two new cases. Ann. Genet. 35:146-151, 1992. [PubMed: 1466563]Case 1, JP.47,XX,+mar,del(18)(q12.1q12.3).&Father:47,XY,+mar.The 2.4 year old patient was evaluated because of psychomotor retardation.Case 2, VG.46,XY,del(18)(q12.1q12.3)de novo.Patient was seen at 23 months because of febrile convulsions.Aberration: Interstitial deletionChromosomal Aneuploidy: 18q-Positive band
- Strathdee G, Harrison W, Riethman H C, Goodart S A, Overhauser J: Interstitial deletions are not the main mechanism leading to 18q deletions. AJHG 54:1085-1091, 1994. [PMC free article: PMC1918195] [PubMed: 8198131]Patient JL111:46,XX,del(18)(q22.1qter).Patient JL143:46,XY,del(18)(q22.1qter).Patient JL156:46,XY,del(18)(q21.3qter).A human telomeric YAC clone was used.Patient JL208:46,XY,del(18)(q12.1q21.3).Aberration: TD,IDMIM#: 601808Chromosomal Aneuploidy: 18q-Index Terms: TelomerePositive band
- Wolff D J, Schwartz M F, Cohen M M, Schwartz S: Precise mapping of a de novo duplication 18(q21 to q22) utilizing cytogenetic, biochemical, and molecular techniques. AJMG 46:520-523, 1993. [PubMed: 8322813]46,XX,-18,+inv dup(18)(pter->q12.1::q22->q21::q12.1->qter).The patient had several dysmorphic features and was 12 years old.Aberration: DuplicationChromosomal Aneuploidy: 18q+Positive band
- 18q121 - Chromosomal Variation in Man18q121 - Chromosomal Variation in Man
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