Distal 15q trisomy with Dandy-Walker malformation in a female infant

Ieshima, Atsushi; Takeshita, Kenzo; Shirasaka, Yukiyoshi; Nakao, Yasushi; Kisa, Toshiro

doi:10.1007/bf01876473

Cited by 8 publications

(4 citation statements)

References 9 publications

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“…Partial trisomy 15q involving duplication of bands between 15q21 and 15q23 has been associated with a specific clinical phenotype (for review see Jones [1997]). Clinical features in our patient consistent with this syndrome include Dandy-Walker malformation [Ieshima et al, 1985], hydrocephaly, [Pederson, 1976;Tzancheva et al, 1981;Zergollern et al, 1982], and facial asymmetry [Ieshima, 1985]. Massive hydrocephalus in our patient resulted in severe distortion of the bony plates of the skull and face (Fig.…”

Section: Discussionsupporting

confidence: 52%

Mosaicism with a normal cell line and an unbalanced structural rearrangement

Zaslav¹,

Fallet²,

Blumenthal³

et al. 1999

Am. J. Med. Genet.

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Section: Discussionsupporting

confidence: 52%

Mosaicism with a normal cell line and an unbalanced structural rearrangement

Zaslav¹,

Fallet²,

Blumenthal³

et al. 1999

Am. J. Med. Genet.

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“…There are cases of DWS with complications of partial monosomy 12q (Chen et al . 2006) in chromosome 12, distal trisomy 15q (Ieshima et al . 1985) in chromosome 15, chromosome 16 (Aviv et al .…”

Section: Review Of Published Reportsmentioning

confidence: 99%

“…There are reports on partial trisomy 3 and partial monosomy 11q (Chen et al 2002), and partial trisomy 11/22 (Katafuchi et al 1990;Dean et al 1991;Chen et al 1996) in chromosome 11. There are cases of DWS with complications of partial monosomy 12q (Chen et al 2006) in chromosome 12, distal trisomy 15q (Ieshima et al 1985) in chromosome 15, chromosome 16 (Aviv et al 2005), chromosome 17 (Kingston et al 1993), and non-mosaic trisomy 20 (Hsieh et al 1992) in chromosome 20. There are cases of DWS associated with trisomy 21 (Constantini et al 1989;Estroff et al 1992).…”

Section: Other Chromosomes and Concurrent Cases Of Malformation Syndrmentioning

confidence: 99%

Dandy–Walker syndrome and chromosomal abnormalities

Imataka

Yamanouchi

Arisaka

2007

Congenital Anomalies

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Dandy-Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to various types of chromosomal abnormalities and malformation syndromes. In the present article, we present a bibliographical survey of several previously issued reports on chromosomal abnormalities associated with DWS, including our case of DWS found in trisomy 18. There are various types of chromosomal abnormalities associated with DWS; most of them are reported in chromosome 3, 9, 13 and 18. We also summarize some other chromosomal abnormalities and various congenital malformation syndromes.

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“…Clinical features in our patient consistent with this syndrome include Dandy-Walker malformation [Ieshima et al, 1985], hydrocephaly, [Pederson, 1976;Tzancheva et al, 1981;Zergollern et al, 1982], and facial asymmetry [Ieshima, 1985]. Massive hydrocephalus in our patient resulted in severe distortion of the bony plates of the skull and face (Fig.…”

Section: Discussionmentioning

confidence: 57%