Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 (46,XX,dir dup (1) (q12→q23)/46,XX)

Emily L. Germain-Lee; Gerald Schiffman; Emilie H. Mules; Howard M. Lederman

doi:10.1016/S0022-3476(05)82454-0

Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 (46,XX,dir dup (1) (q12→q23)/46,XX)

Emily L. Germain-Lee, Gerald Schiffman, Emilie H. Mules, Howard M. Lederman

School of Medicine

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Original language	English (US)
Pages (from-to)	96-99
Number of pages	4
Journal	The Journal of pediatrics
Volume	117
Issue number	1 PART 1
DOIs	https://doi.org/10.1016/S0022-3476(05)82454-0
State	Published - Jul 1990

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(05)82454-0

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@article{01dc4cc3a2e741c28b89168c9f55495b,

title = "Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 (46,XX,dir dup (1) (q12→q23)/46,XX)",

author = "Germain-Lee, {Emily L.} and Gerald Schiffman and Mules, {Emilie H.} and Lederman, {Howard M.}",

note = "Funding Information: Cytogenetic analysis of lymphocyte cultures from the proband revealed two cell lines \[46,XX, dir dup (1) (pter ~ q23::q12 q23::q23 ~ qter)/46,XX\]. In the first cell line (39/50 = 78%) a direct duplication in the long arm of chromosome 1 was present, the duplicated segment being lq12 ~ lq23 (Figure). The second cell line (11/50 = 22%) had a normal 46,XX karyotype. The proband was thus mosaic for trisomy of the ql 2 --~ q23 portion of chromo- Supported in part by grants Nos. AI23023 and RR 05378 from the National Institutes of Health (Dr. Lederman) and by Core Grant No. HD 24061 from the National Institute of Child Health and Human Development Mental Retardation Research Center (Ms. Mules). Submitted for publication Oct. 9, 1989; accepted Jan. 29, 1990. Reprint requests: Howard M. Lederman, MD, PhD, Eudowood Division of Pediatric Immunology, CMSC 1103, Johns Hopkins Hospital, Baltimore, MD 21205.",

year = "1990",

month = jul,

doi = "10.1016/S0022-3476(05)82454-0",

language = "English (US)",

volume = "117",

pages = "96--99",

journal = "The Journal of pediatrics",

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publisher = "Mosby Inc.",

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T1 - Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 (46,XX,dir dup (1) (q12→q23)/46,XX)

AU - Germain-Lee, Emily L.

AU - Schiffman, Gerald

AU - Mules, Emilie H.

AU - Lederman, Howard M.

N1 - Funding Information: Cytogenetic analysis of lymphocyte cultures from the proband revealed two cell lines \[46,XX, dir dup (1) (pter ~ q23::q12 q23::q23 ~ qter)/46,XX\]. In the first cell line (39/50 = 78%) a direct duplication in the long arm of chromosome 1 was present, the duplicated segment being lq12 ~ lq23 (Figure). The second cell line (11/50 = 22%) had a normal 46,XX karyotype. The proband was thus mosaic for trisomy of the ql 2 --~ q23 portion of chromo- Supported in part by grants Nos. AI23023 and RR 05378 from the National Institutes of Health (Dr. Lederman) and by Core Grant No. HD 24061 from the National Institute of Child Health and Human Development Mental Retardation Research Center (Ms. Mules). Submitted for publication Oct. 9, 1989; accepted Jan. 29, 1990. Reprint requests: Howard M. Lederman, MD, PhD, Eudowood Division of Pediatric Immunology, CMSC 1103, Johns Hopkins Hospital, Baltimore, MD 21205.

PY - 1990/7

Y1 - 1990/7

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U2 - 10.1016/S0022-3476(05)82454-0

DO - 10.1016/S0022-3476(05)82454-0

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AN - SCOPUS:0025277270

SN - 0022-3476

VL - 117

SP - 96

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JO - The Journal of pediatrics

JF - The Journal of pediatrics

IS - 1 PART 1

ER -

Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 (46,XX,dir dup (1) (q12→q23)/46,XX)

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