Trisomy 7p: report of 2 patients and literature review

Y.H.J.M. Arens; A. Toutain; J.J.M. Engelen; J.P.M. Offermans; A.J.H. Hamers; J.J.P. Schrander; C.F.M. Pulles-Heintzberger; C.T.R.M. Schrander-Stumpel

Trisomy 7p: report of 2 patients and literature review

Y.H.J.M. Arens, A. Toutain, J.J.M. Engelen, J.P.M. Offermans, A.J.H. Hamers, J.J.P. Schrander, C.F.M. Pulles-Heintzberger, C.T.R.M. Schrander-Stumpel^*

^*Corresponding author for this work

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

Abstract

Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.

Original language	English
Pages (from-to)	347-354
Number of pages	8
Journal	Genetic Counseling
Volume	11
Issue number	4
Publication status	Published - 1 Jan 2000

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Arens, Y. H. J. M., Toutain, A., Engelen, J. J. M., Offermans, J. P. M., Hamers, A. J. H., Schrander, J. J. P., Pulles-Heintzberger, C. F. M., & Schrander-Stumpel, C. T. R. M. (2000). Trisomy 7p: report of 2 patients and literature review. Genetic Counseling, 11(4), 347-354. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11140412&dopt=Abstract

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title = "Trisomy 7p: report of 2 patients and literature review",

abstract = "Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.",

author = "Y.H.J.M. Arens and A. Toutain and J.J.M. Engelen and J.P.M. Offermans and A.J.H. Hamers and J.J.P. Schrander and C.F.M. Pulles-Heintzberger and C.T.R.M. Schrander-Stumpel",

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language = "English",

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pages = "347--354",

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T1 - Trisomy 7p: report of 2 patients and literature review

AU - Arens, Y.H.J.M.

AU - Toutain, A.

AU - Engelen, J.J.M.

AU - Offermans, J.P.M.

AU - Hamers, A.J.H.

AU - Schrander, J.J.P.

AU - Pulles-Heintzberger, C.F.M.

AU - Schrander-Stumpel, C.T.R.M.

PY - 2000/1/1

Y1 - 2000/1/1

N2 - Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.

AB - Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.

M3 - Article

SN - 1015-8146

VL - 11

SP - 347

EP - 354

JO - Genetic Counseling

JF - Genetic Counseling

IS - 4

ER -

Trisomy 7p: report of 2 patients and literature review

Abstract

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