2013
DOI: 10.1002/ajmg.a.35928
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Familial trisomy 6p in mother and daughter

Abstract: Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial tandem duplication. The patient, an 11-year-old female, presented with mild dysmorphic features, moderate intellectual disability with behavioral disturbances, immunodeficiency, and epilepsy. Conventional cytogenetic analysis showed a duplication of the 6p region … Show more

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Cited by 4 publications
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“…Due to differences in stimulation protocols, sonographic approaches, and difficulties in obtaining a standard sagittal view of the uterus, discrepancies in the cut-off value of endometrial thickness to achieve pregnancy arise [22]. Generally, it is considered that a minimum of 6-8 mm in endometrial thickness is necessary for a successful pregnancy [23][24][25]. Nevertheless, case reports have described pregnancy establishment despite an endometrial thickness of no more than 4 mm [26,27].…”
Section: Evaluation Of Endometrial Morphology For Receptivity Assessmentmentioning
confidence: 99%
“…Due to differences in stimulation protocols, sonographic approaches, and difficulties in obtaining a standard sagittal view of the uterus, discrepancies in the cut-off value of endometrial thickness to achieve pregnancy arise [22]. Generally, it is considered that a minimum of 6-8 mm in endometrial thickness is necessary for a successful pregnancy [23][24][25]. Nevertheless, case reports have described pregnancy establishment despite an endometrial thickness of no more than 4 mm [26,27].…”
Section: Evaluation Of Endometrial Morphology For Receptivity Assessmentmentioning
confidence: 99%