A multi-center analysis of individuals with a 47,XXY/46,XX karyotype.

INTRODUCTION: Klinefelter syndrome (KS), a sex chromosome aneuploidy, is associated with a 47,XXY chromosomal complement and is diagnosed in ∼1:600 live male births. Individuals with a 46,XX cell line in addition to 47,XXY are less common with a limited number of published case reports. METHODOLOGY: To better understand the implications of a 47,XXY/46,XX karyotype, we conducted a retrospective, multi-center analysis of the cytogenetic findings and associated clinical records of 34 patients diagnosed with this SCA across 14 institutions. RESULTS: Presence of the XX cell line ranged from 5-98% in patient specimens. Phenotypes also exhibited significant heterogeneity with some reporting a single reason for referral and others presenting with a constellation of symptoms, including ambiguous genitalia and ovotestes. Ovotestes were present in 12% of individuals in this cohort, who had a significantly higher percentage of XX cells. Notably, two patients were assigned female sex at birth DISCUSSION: These findings highlight the variability of the clinical phenotypes associated with this SCA as well as the challenges of clinical management for this population. Karyotype or FISH analysis, which offer single-cell resolution, rather than chromosomal microarray or molecular testing, is the ideal test strategy in these instances as mosaicism can occur at low levels.

Assessing clinical education tools for expanded carrier screening.

Expanded carrier screening (ECS) is increasingly offered to a broader population and raises challenges of how to best educate and counsel the volume of screened individuals. For this study, we compared three educational tools (brochure, video and comic) about ECS on knowledge and decision making. A convenience online sample of 151 pregnant women was randomized to one of three groups (Video, n = 42; Comic n = 54; Brochure n = 55). Knowledge scores were significantly higher for the comic group compared to the video or the brochure groups (p < .001). No significant differences in preparation for decision making, decisional conflict, or perceptions of shared decision making were identified between the study groups. This study suggests that a comic about ECS may improve patient attention and retention of information. The use of graphic narratives may enable individuals to better understand medical information in general.

Autobiographical Memory Content and Recollection Frequency: Public Release of Quantitative Datasets and Representative Classification Analysis.

Autobiographical memory (AM), the recollection of personally-experienced events, has several adaptive functions and has been studied across numerous dimensions. We previously introduced two methods to quantify across the life span AM content (the amount and types of retrieved details) and the everyday occurrence of its recollection. The CRAM (cue-recalled autobiographical memory) test used naturalistic word prompts to elicit AMs. Subjects dated the memories to life periods and reported the numbers of details recalled across eight features (e.g., spatial detail, temporal detail, people, and emotions). In separate subjects, an experience sampling method quantified in everyday settings the frequency of AM retrieval and of mental representation of future personal events or actions (termed prospective memory: PM); these data permit evaluation of the temporal orientation of episodic recollection. We describe these datasets now publicly released in open access (CRAM: doi.org/10.6084/m9.figshare.10246958; AM-PM experience-sampling: doi.org/10.6084/m9.figshare.10246940). We also present examples of data mining, using cluster analyses of CRAM (14,242 AMs scored for content from 4,244 subjects). Analysis of raw feature scores yielded three AM clusters separated by total recalled content. Normalizing for total content revealed three classes of AM based on the relative contributions of each feature: AMs containing a relatively large number of details related to people, AMs containing a high degree of spatial information, and AMs with details equally distributed across features. Differences in subject age, memory age, and total content were detected across feature clusters. These findings highlight the value in additional mining of these datasets to further our understanding of autobiographical recollection.