PDF(Pubmed)
Abstract：
UNASSIGNED: Partial trisomy 6p is a rare chromosomal anomaly, characterized by low birth weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart defects, and renal abnormalities. Some of the partial trisomy 6p cases reported in the literature included partial monosomy of another chromosome. This is often due to the fact that one of the parents is a balanced translocation carrier, thereby making it difficult to determine the genotype-phenotype relationship. Pure partial trisomy 6p cases are even rarer and may occur as a result of a marker chromosome, tandem or inverted duplication, and interchromosomal insertion.
UNASSIGNED: In this study, we evaluated the physical characteristics and genetic data of a 2-year-old girl with developmental delay and facial dysmorphic features. Dysmorphology assessment revealed the presence of a prominent forehead, short and narrow palpebral fissures, blepharoptosis, convex nasal ridge, hemangioma on the left eyelid, high-arched palate, retromicrognathia, and low-set ears. The patient‧s G-banded karyotype was 46,XX,der(2)t(2;6)(q37.3;p22.1). Upon SNP-array analysis, aimed to determine the origin of the extra chromosomal material detected in chromosome 2 of the patient, there was a de novo 27.5-Mb duplication at 6p, arr[GRCh37] 6p25.3p22.1(204,909_27,835,272)×3, interpreted to be pathogenic.
UNASSIGNED: We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and contribute to the literature in terms of knowledge regarding genotype-phenotype correlation.
UNASSIGNED: In this study, we evaluated the physical characteristics and genetic data of a 2-year-old girl with developmental delay and facial dysmorphic features. Dysmorphology assessment revealed the presence of a prominent forehead, short and narrow palpebral fissures, blepharoptosis, convex nasal ridge, hemangioma on the left eyelid, high-arched palate, retromicrognathia, and low-set ears. The patient‧s G-banded karyotype was 46,XX,der(2)t(2;6)(q37.3;p22.1). Upon SNP-array analysis, aimed to determine the origin of the extra chromosomal material detected in chromosome 2 of the patient, there was a de novo 27.5-Mb duplication at 6p, arr[GRCh37] 6p25.3p22.1(204,909_27,835,272)×3, interpreted to be pathogenic.
UNASSIGNED: We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and contribute to the literature in terms of knowledge regarding genotype-phenotype correlation.
摘要：
未经证实：部分三体性6p是一种罕见的染色体异常，以低出生体重为特征，发育迟缓,颅面异常,喂养困难，先天性心脏缺陷,和肾脏异常。文献中报道的一些部分三体性6p病例包括另一条染色体的部分单体性。这通常是由于父母之一是平衡的易位携带者，从而难以确定基因型-表型关系。纯粹的部分三体6p病例更罕见，可能是标记染色体的结果，串联或倒置复制，和染色体间插入。
未经批准：在这项研究中，我们评估了一个发育迟缓和面部畸形特征的2岁女孩的身体特征和遗传数据。形态学评估显示存在突出的前额，短而窄的睑裂，上睑下垂,外凸鼻脊,左眼睑血管瘤,高拱形腭,小颌后,低耳朵。患者的G带核型为46,XX,der（2）t（2；6）（q37.3；p22.1）。通过SNP阵列分析，旨在确定患者2号染色体中检测到的额外染色体物质的来源，在6p有一个从头27.5MB的重复，ARR[GRCh37]6p25.3p22.1（204,909_27,835,272）×3，被解释为致病性。
未经授权：我们提供此病例报告以阐明罕见染色体异常的临床发现，讨论可能与表型相关的基因，并在有关基因型-表型相关性的知识方面为文献做出贡献。
未经批准：在这项研究中，
未经授权：我们提供此病例报告以阐明罕见染色体异常的临床发现，
