Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

Fady M Mikhail; Achara Sathienkijkanchai; Nathaniel H Robin; Sandra Prucka; Julie Sanford Biggerstaff; Jan Komorowski; Robin Andersson; Carl E G Bruder; Arkadiusz Piotrowski; Teresita Diaz de Ståhl; Jan P Dumanski; Andrew J Carroll

doi:10.1002/ajmg.a.31821

Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

Fady M Mikhail, Achara Sathienkijkanchai, Nathaniel H Robin, Sandra Prucka, Julie Sanford Biggerstaff, Jan Komorowski, Robin Andersson, Carl E G Bruder, Arkadiusz Piotrowski, Teresita Diaz de Ståhl, Jan P Dumanski, Andrew J Carroll

4 Citationer (Scopus)

Abstract

We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydronephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11)(pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes.

Originalsprog	Engelsk
Tidsskrift	American Journal of Medical Genetics. Part A
Vol/bind	143A
Udgave nummer	15
Sider (fra-til)	1760-6
Antal sider	7
ISSN	1552-4825
DOI	https://doi.org/10.1002/ajmg.a.31821
Status	Udgivet - 1 aug. 2007
Udgivet eksternt	Ja

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10.1002/ajmg.a.31821

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Mikhail, F. M., Sathienkijkanchai, A., Robin, N. H., Prucka, S., Biggerstaff, J. S., Komorowski, J., Andersson, R., Bruder, C. E. G., Piotrowski, A., Diaz de Ståhl, T., Dumanski, J. P., & Carroll, A. J. (2007). Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter). American Journal of Medical Genetics. Part A, 143A(15), 1760-6. https://doi.org/10.1002/ajmg.a.31821

Mikhail, FM, Sathienkijkanchai, A, Robin, NH, Prucka, S, Biggerstaff, JS, Komorowski, J, Andersson, R, Bruder, CEG, Piotrowski, A, Diaz de Ståhl, T, Dumanski, JP & Carroll, AJ 2007, 'Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)', American Journal of Medical Genetics. Part A, bind 143A, nr. 15, s. 1760-6. https://doi.org/10.1002/ajmg.a.31821

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title = "Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)",

abstract = "We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydronephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11)(pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes.",

keywords = "Beckwith-Wiedemann Syndrome, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 4, Female, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Infant, Phenotype, Sequence Deletion, Translocation, Genetic, Wolf-Hirschhorn Syndrome",

author = "Mikhail, {Fady M} and Achara Sathienkijkanchai and Robin, {Nathaniel H} and Sandra Prucka and Biggerstaff, {Julie Sanford} and Jan Komorowski and Robin Andersson and Bruder, {Carl E G} and Arkadiusz Piotrowski and {Diaz de St{\aa}hl}, Teresita and Dumanski, {Jan P} and Carroll, {Andrew J}",

year = "2007",

month = aug,

day = "1",

doi = "10.1002/ajmg.a.31821",

language = "English",

volume = "143A",

pages = "1760--6",

journal = "American Journal of Medical Genetics. Part A",

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publisher = "JohnWiley & Sons, Inc.",

number = "15",

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TY - JOUR

T1 - Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

AU - Mikhail, Fady M

AU - Sathienkijkanchai, Achara

AU - Robin, Nathaniel H

AU - Prucka, Sandra

AU - Biggerstaff, Julie Sanford

AU - Komorowski, Jan

AU - Andersson, Robin

AU - Bruder, Carl E G

AU - Piotrowski, Arkadiusz

AU - Diaz de Ståhl, Teresita

AU - Dumanski, Jan P

AU - Carroll, Andrew J

PY - 2007/8/1

Y1 - 2007/8/1

N2 - We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydronephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11)(pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes.

AB - We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydronephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11)(pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes.

KW - Beckwith-Wiedemann Syndrome

KW - Chromosomes, Human, Pair 11

KW - Chromosomes, Human, Pair 4

KW - Female

KW - Gene Rearrangement

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Infant

KW - Phenotype

KW - Sequence Deletion

KW - Translocation, Genetic

KW - Wolf-Hirschhorn Syndrome

U2 - 10.1002/ajmg.a.31821

DO - 10.1002/ajmg.a.31821

M3 - Journal article

C2 - 17603794

SN - 1552-4825

VL - 143A

SP - 1760

EP - 1766

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 15

ER -

Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

Abstract

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