Phenotypic variations in wolf-hirschhorn syndrome.
Phenotypic variations in wolf-hirschhorn syndrome.
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DOI：
10.2478/bjmg-2014-0021
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发表时间：
2014-06
期刊：
影响因子：
--
通讯作者：
Angelkova N
中科院分区：
文献类型：
--
作者：
Sukarova-Angelovska E;Kocova M;Sabolich V;Palcevska S;Angelkova N
Wolf-Hirschhorn综合征（WHS）是一种罕见的染色体疾病，由4号染色体短臂末端缺失引起。临床表现包括生长迟缓、严重智力迟钝、典型的“希腊头盔”样脸、癫痫发作以及大脑、心脏、上颚和生殖器的中线缺陷。最近使用的分子技术由于检测到较小的缺失而增加了诊断病例的数量。临床表现的严重程度是可变的，这取决于缺失区域中基因的单倍不足。我们提出了六个孩子WHS与变量的临床表现。对几个要素（面部畸形、智力迟钝、其他先天性异常）的评估将其分为轻微、轻度或重度。其中3名儿童在染色体4p上有可见的细胞遗传学缺失，2名儿童有荧光原位杂交（FISH）检测到的微缺失，1名儿童的临床表现不太典型，有嵌合型缺失。证实了临床表现与缺失区域长度之间的相关性。
Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic “Greek helmet” like face, seizures and midline defects in the brain, heart, palate and genitalia. Recently-used molecular techniques increase the number of diagnosed cases due to the detection of smaller deletions. The severity of the clinical presentation is variable depending on the haploinsufficiency of genes in a deleted region. We present six children with WHS with variable clinical appearance. The assessment of several elements (facial dysmorphism, mental retardation, additional congenital anomalies) provided classification into minor, mild or severe forms. Three of the children had a visible cytogenetic deletion on chromosome 4p, two had microdeletions detected with fluorescent in situ hybridization (FISH), and one child with a less characteristic clinical picture had a mosaic type of the deletion. Correlation between the clinical presentation and the length of the deleted region was confirmed.
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影响因子：
4
作者：
TUPLER, R;BORTOTTO, L;MARASCHIO, P
通讯作者：
MARASCHIO, P
影响因子：
3.5
作者：
Wright, TJ;Ricke, DO;Altherr, MR
通讯作者：
Altherr, MR
影响因子：
5.2
作者：
Wieczorek, D;Krause, M;Gillessen-Kaesbach, G
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Gillessen-Kaesbach, G
影响因子：
4
作者：
ESTABROOKS, LL;LAMB, AN;RAO, KW
通讯作者：
RAO, KW
影响因子：
5.2
作者：
Berg, Klara Flipsen-ten;Van Hasselt, Peter M.;Poot, Martin
通讯作者：
Poot, Martin