2009年4月10日 · Chromosome 18q- syndrome (also known as Chromosome 18, Monosomy 18q) is a rare chromosomal disorder in which there is deletion of part of the long arm (q) of chromosome 18. Associated symptoms and findings may vary greatly in …

Distal 18q-is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18.

Distal 18q deletion syndrome is caused by a deletion of genetic material from one copy of chromosome 18 anywhere between a region called 18q21 and the end of the chromosome. The size of the deletion and where it begins vary among affected individuals.

ICD-10 = Q99.9 or Q93.89. These recommendations are inclusive of the entire population of people with Distal 18q deletions even though each person has a unique deletion. Therefore each person’s deletion could have different genes that are hemizygous.

What is 18q: A Sixty-Second Summary (Aliases: 18q deletion syndrome, partial monosomy 18q, de Grouchy Syndrome, chromosome 18 long-arm deletion syndrome) ICD-10 = Q99.9 or Q93.89

People with an 18q deletion have one intact chromosome 18, but the other is missing a smaller or larger piece and this can affect their learning and physical development. Most of the clinical difficulties are probably caused by the presence of only one copy (instead of the usual two) of a number of genes.

Distal 18q- happens when a piece of the long arm of one of the two copies of chromosome 18 is missing. This means there is one copy instead of two for each of the genes in the deleted region of the chromosome. This condition is different from another condition called proximal 18q-.

Proximal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.

18号染色体是人类所有染色体中基因密度最低的，但是却有很多遗传病都与此条染色体有关，在临床上比较常见的异常现象包括微重复、断臂缺失以及18-三体综合征等，这些异常对胎儿的影响较大，基本上都已妊娠失败结局告终。 18号染色体正常形状. 整个18号染色体共包含400多个基因，此条染色体异常就是指的这些基因部分缺失或者重复现象，科学家通过对果蝇模型和小鼠模型的研究发现，18号染色体异常大约只与这其中10%的基因（大概40个基因）有关。 这些基因的缺失 …

Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.